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Variant Placements (including Supporting Variants) for estd210
Study IDVariant IDVariant Region typeVariant Call typeSampleset IDMethodAnalysis IDValidationVariant samplesSubject phenotypeClinical InterpretationAssemblyAccessionChrOuter-StartStartInner-StartInner-EndEndOuter-EndPlacement TypeRemap Score
estd210essv26058942interchromosomal translocationSequencingSplit read and paired-end mappingYes10001047_1_1GRCh37 (hg19)NC_000002.11281817908181790Submitted genomic
estd210essv26058942interchromosomal translocationSequencingSplit read and paired-end mappingYes10001047_1_1GRCh37 (hg19)NC_000007.137135245984135245984Submitted genomic
estd210essv26058942interchromosomal translocationSequencingSplit read and paired-end mappingYes10001047_1_1GRCh37 (hg19)NC_000002.11281817908181790Submitted genomic
estd210essv26058942interchromosomal translocationSequencingSplit read and paired-end mappingYes10001047_1_1GRCh37 (hg19)NC_000007.137135245984135245984Submitted genomic
estd210essv26058942interchromosomal translocationSequencingSplit read and paired-end mappingYes10001047_1_1GRCh38.p12NC_000002.12280416608041660Remapped1
estd210essv26058942interchromosomal translocationSequencingSplit read and paired-end mappingYes10001047_1_1GRCh38.p12NC_000007.147135561236135561236Remapped1
estd210essv26058943inversionSequencingSplit read and paired-end mappingYes10001047_1_1GRCh37 (hg19)NC_000002.11222350265162196595Submitted genomic
estd210essv26058943inversionSequencingSplit read and paired-end mappingYes10001047_1_1GRCh37 (hg19)NC_000002.11222350265162196595Submitted genomic
estd210essv26058943inversionSequencingSplit read and paired-end mappingYes10001047_1_1GRCh38.p12NC_000002.12222127393161340084Remapped0.99547
estd210essv26058944inversionSequencingSplit read and paired-end mappingYes10001047_1_1mental retardation, neurodevelopmental disorderGRCh37 (hg19)NC_000002.112185679985188161779Submitted genomic
estd210essv26058944inversionSequencingSplit read and paired-end mappingYes10001047_1_1mental retardation, neurodevelopmental disorderGRCh37 (hg19)NC_000002.112185679985188161779Submitted genomic
estd210essv26058944inversionSequencingSplit read and paired-end mappingYes10001047_1_1mental retardation, neurodevelopmental disorderGRCh38.p12NC_000002.122184815258187297052Remapped1
estd210essv26058945deletionSequencingSplit read and paired-end mappingNo10001047_1_1GRCh37 (hg19)NC_000019.9195480025254809071Submitted genomic
estd210essv26058945deletionSequencingSplit read and paired-end mappingNo10001047_1_1GRCh37 (hg19)NC_000019.9195480025254809071Submitted genomic
estd210essv26058945deletionSequencingSplit read and paired-end mappingNo10001047_1_1GRCh38.p12NT_187693.119|NT_187693.1271366280185Remapped1
estd210essv26058945deletionSequencingSplit read and paired-end mappingNo10001047_1_1GRCh38.p12NW_003571054.119|NW_003571054.1271137279956Remapped1
estd210essv26058945deletionSequencingSplit read and paired-end mappingNo10001047_1_1GRCh38.p12NW_003571055.219|NW_003571055.2271018279838Remapped1.00011
estd210essv26058945deletionSequencingSplit read and paired-end mappingNo10001047_1_1GRCh38.p12NW_003571061.219|NW_003571061.2271393280212Remapped1
estd210esv4002915inversionYesGRCh37 (hg19)NC_000002.11222350265162196595Submitted genomic
estd210esv4002915inversionYesGRCh37 (hg19)NC_000002.11222350265162196595Submitted genomic
estd210esv4002915inversionYesGRCh38.p12NC_000002.12222127393161340084Remapped0.99547
estd210esv4002916inversionYesGRCh37 (hg19)NC_000002.112185679985188161779Submitted genomic
estd210esv4002916inversionYesGRCh37 (hg19)NC_000002.112185679985188161779Submitted genomic
estd210esv4002916inversionYesGRCh38.p12NC_000002.122184815258187297052Remapped1
estd210esv4002917copy number variationNoGRCh37 (hg19)NC_000019.9195480025254809071Submitted genomic
estd210esv4002917copy number variationNoGRCh37 (hg19)NC_000019.9195480025254809071Submitted genomic
estd210esv4002917copy number variationNoGRCh38.p12NT_187693.119|NT_187693.1271366280185Remapped1
estd210esv4002917copy number variationNoGRCh38.p12NW_003571054.119|NW_003571054.1271137279956Remapped1
estd210esv4002917copy number variationNoGRCh38.p12NW_003571055.219|NW_003571055.2271018279838Remapped1.00011
estd210esv4002917copy number variationNoGRCh38.p12NW_003571061.219|NW_003571061.2271393280212Remapped1
estd210esv4002935translocationYesGRCh37 (hg19)NC_000002.11281817908181790Submitted genomic
estd210esv4002935translocationYesGRCh37 (hg19)NC_000007.137135245984135245984Submitted genomic
estd210esv4002935translocationYesGRCh37 (hg19)NC_000002.11281817908181790Submitted genomic
estd210esv4002935translocationYesGRCh37 (hg19)NC_000007.137135245984135245984Submitted genomic
estd210esv4002935translocationYesGRCh38.p12NC_000002.12280416608041660Remapped1
estd210esv4002935translocationYesGRCh38.p12NC_000007.147135561236135561236Remapped1
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