Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3890554

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 192 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):7,651,239-7,651,239

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890554	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	7,651,239	7,651,239
esv3890554	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	7,803,835	7,803,835

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25755645	mobile element insertion	SAMN01036794	Sequencing	Read depth and paired-end mapping	Homozygous	3,138
essv25755646	mobile element insertion	SAMN01761226	Sequencing	Read depth and paired-end mapping	Homozygous	3,196
essv25755647	mobile element insertion	SAMN01090758	Sequencing	Read depth and paired-end mapping	Homozygous	3,041
essv25755648	mobile element insertion	SAMN00001025	Sequencing	Read depth and paired-end mapping	Homozygous	3,307
essv25755649	mobile element insertion	SAMN00001663	Sequencing	Read depth and paired-end mapping	Homozygous	3,112
essv25755650	mobile element insertion	SAMN00001672	Sequencing	Read depth and paired-end mapping	Homozygous	2,981
essv25755651	mobile element insertion	SAMN00001688	Sequencing	Read depth and paired-end mapping	Homozygous	3,391

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25755645	Remapped	Perfect	NC_000012.12:g.765 1239_7651240ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,651,239	7,651,239
essv25755646	Remapped	Perfect	NC_000012.12:g.765 1239_7651240ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,651,239	7,651,239
essv25755647	Remapped	Perfect	NC_000012.12:g.765 1239_7651240ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,651,239	7,651,239
essv25755648	Remapped	Perfect	NC_000012.12:g.765 1239_7651240ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,651,239	7,651,239
essv25755649	Remapped	Perfect	NC_000012.12:g.765 1239_7651240ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,651,239	7,651,239
essv25755650	Remapped	Perfect	NC_000012.12:g.765 1239_7651240ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,651,239	7,651,239
essv25755651	Remapped	Perfect	NC_000012.12:g.765 1239_7651240ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,651,239	7,651,239
essv25755645	Submitted genomic		NC_000012.11:g.780 3835_7803836ins?	GRCh37 (hg19)		NC_000012.11	Chr12	7,803,835	7,803,835
essv25755646	Submitted genomic		NC_000012.11:g.780 3835_7803836ins?	GRCh37 (hg19)		NC_000012.11	Chr12	7,803,835	7,803,835
essv25755647	Submitted genomic		NC_000012.11:g.780 3835_7803836ins?	GRCh37 (hg19)		NC_000012.11	Chr12	7,803,835	7,803,835
essv25755648	Submitted genomic		NC_000012.11:g.780 3835_7803836ins?	GRCh37 (hg19)		NC_000012.11	Chr12	7,803,835	7,803,835
essv25755649	Submitted genomic		NC_000012.11:g.780 3835_7803836ins?	GRCh37 (hg19)		NC_000012.11	Chr12	7,803,835	7,803,835
essv25755650	Submitted genomic		NC_000012.11:g.780 3835_7803836ins?	GRCh37 (hg19)		NC_000012.11	Chr12	7,803,835	7,803,835
essv25755651	Submitted genomic		NC_000012.11:g.780 3835_7803836ins?	GRCh37 (hg19)		NC_000012.11	Chr12	7,803,835	7,803,835

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI