esv2678804

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:26
Validation:Yes
Clinical Assertions: No
Region Size:8,248

Publication(s):1000 Genomes Project Consortium et al. 2012

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 263 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):99,399,667-99,407,914

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2678804	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
esv2678804	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5412779	deletion	SAMN00001294	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	761
essv5426727	deletion	SAMN00001263	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	864
essv5469402	deletion	SAMN00001314	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	746
essv5486944	deletion	SAMN00001273	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,007
essv5519190	deletion	SAMN00001313	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	847
essv5556611	deletion	SAMN00001320	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	842
essv5578968	deletion	SAMN00001277	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	830
essv5609631	deletion	SAMN00001279	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	811
essv5657730	deletion	SAMN00001251	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	740
essv5745525	deletion	SAMN00001257	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	796
essv5759454	deletion	SAMN00001249	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	848
essv5771445	deletion	SAMN00001239	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	879
essv5860148	deletion	SAMN00001266	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	829
essv5921041	deletion	SAMN00001297	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	725
essv6055315	deletion	SAMN00001278	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	870
essv6075724	deletion	SAMN00001247	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,015
essv6077699	deletion	SAMN00001264	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	884
essv6077784	deletion	SAMN00001261	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	968
essv6096207	deletion	SAMN00001235	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	869
essv6142277	deletion	SAMN00001269	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	881
essv6265772	deletion	SAMN00001303	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	751
essv6463820	deletion	SAMN00001246	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	935
essv6467913	deletion	SAMN00001225	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	748
essv6514949	deletion	SAMN00001250	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	802
essv6526208	deletion	SAMN00001224	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	891
essv6595412	deletion	SAMN00001255	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	876

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5412779	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5426727	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5469402	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5486944	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5519190	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5556611	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5578968	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5609631	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5657730	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5745525	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5759454	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5771445	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5860148	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5921041	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6055315	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6075724	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6077699	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6077784	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6096207	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6142277	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6265772	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6463820	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6467913	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6514949	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6526208	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv6595412	Remapped	Perfect	NC_000012.12:g.(99 399667_99400038)_( 99407544_99407914) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,399,667	99,400,038	99,407,544	99,407,914
essv5412779	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5426727	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5469402	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5486944	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5519190	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5556611	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5578968	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5609631	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5657730	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5745525	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5759454	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5771445	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5860148	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv5921041	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6055315	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6075724	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6077699	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6077784	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6096207	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6142277	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6265772	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6463820	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6467913	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6514949	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6526208	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692
essv6595412	Submitted genomic		NC_000012.11:g.(99 793445_99793816)_( 99801322_99801692) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,445	99,793,816	99,801,322	99,801,692

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6526208	7	SAMN00001224	SNP array	Probe signal intensity	Pass
essv6467913	7	SAMN00001225	SNP array	Probe signal intensity	Pass
essv6096207	7	SAMN00001235	SNP array	Probe signal intensity	Pass
essv5771445	7	SAMN00001239	SNP array	Probe signal intensity	Pass
essv6463820	7	SAMN00001246	SNP array	Probe signal intensity	Pass
essv6075724	7	SAMN00001247	SNP array	Probe signal intensity	Pass
essv5759454	7	SAMN00001249	SNP array	Probe signal intensity	Pass
essv6514949	7	SAMN00001250	SNP array	Probe signal intensity	Pass
essv5657730	7	SAMN00001251	SNP array	Probe signal intensity	Pass
essv6595412	7	SAMN00001255	SNP array	Probe signal intensity	Pass
essv5745525	7	SAMN00001257	SNP array	Probe signal intensity	Pass
essv6077784	7	SAMN00001261	SNP array	Probe signal intensity	Pass
essv5426727	7	SAMN00001263	SNP array	Probe signal intensity	Pass
essv6077699	7	SAMN00001264	SNP array	Probe signal intensity	Pass
essv5860148	7	SAMN00001266	SNP array	Probe signal intensity	Pass
essv6142277	7	SAMN00001269	SNP array	Probe signal intensity	Pass
essv5486944	7	SAMN00001273	SNP array	Probe signal intensity	Pass
essv5578968	7	SAMN00001277	SNP array	Probe signal intensity	Pass
essv6055315	7	SAMN00001278	SNP array	Probe signal intensity	Pass
essv5609631	7	SAMN00001279	SNP array	Probe signal intensity	Pass
essv5412779	7	SAMN00001294	SNP array	Probe signal intensity	Pass
essv5921041	7	SAMN00001297	SNP array	Probe signal intensity	Pass
essv6265772	7	SAMN00001303	SNP array	Probe signal intensity	Pass
essv5519190	7	SAMN00001313	SNP array	Probe signal intensity	Pass
essv5469402	7	SAMN00001314	SNP array	Probe signal intensity	Pass
essv5556611	7	SAMN00001320	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2678804

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

Validation Information

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant