A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631454



Internal ID7018263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:21155131..21157989hg38UCSC Ensembl
Innerchr13:21155281..21157839hg38UCSC Ensembl
Outerchr13:21154981..21158139hg38UCSC Ensembl
chr13:21729270..21732128hg19UCSC Ensembl
Innerchr13:21729420..21731978hg19UCSC Ensembl
Outerchr13:21729120..21732278hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg382859
hg192859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14659248, essv14659261, essv14659301, essv14659296, essv14659281, essv14659273, essv14659241, essv14659246, essv14659297, essv14659280, essv14659277, essv14659268, essv14659256, essv14659290, essv14659275, essv14659299, essv14659289, essv14659298, essv14659272, essv14659244, essv14659247, essv14659258, essv14659242, essv14659254, essv14659294, essv14659262, essv14659257, essv14659284, essv14659259, essv14659300, essv14659265, essv14659260, essv14659251, essv14659295, essv14659291, essv14659270, essv14659252, essv14659245, essv14659285, essv14659269, essv14659255, essv14659282, essv14659250, essv14659287, essv14659267, essv14659271, essv14659274, essv14659253, essv14659249, essv14659279, essv14659266, essv14659264, essv14659278, essv14659288, essv14659293, essv14659276, essv14659243, essv14659286, essv14659283, essv14659292, essv14659263
SamplesHG00189, HG00442, HG02250, HG01860, NA19332, HG04229, HG02231, HG00257, NA19350, HG02394, NA19920, HG01809, NA19792, HG02155, HG01843, HG02374, NA20768, HG03978, HG01393, HG01859, HG00683, NA19917, HG03693, NA20811, HG00338, NA18985, NA20587, HG02409, HG02166, NA20787, HG00653, HG00368, HG00436, NA20519, NA18548, HG00690, HG02494, NA06989, HG02031, HG00864, HG00353, HG02696, NA18950, HG02064, NA19090, HG03689, HG00278, HG00473, HG02133, HG00672, HG00409, HG01868, NA20849, HG00329, HG02392, HG00698, NA18984, HG02353, NA18989, HG04153, HG00180
Known GenesSKA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631454
Frequency
Sample Size2504
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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