A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587515



Internal ID6974938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150887778..150890329hg38UCSC Ensembl
Innerchr1:150887782..150890325hg38UCSC Ensembl
Outerchr1:150887774..150890333hg38UCSC Ensembl
chr1:150860254..150862805hg19UCSC Ensembl
Innerchr1:150860258..150862801hg19UCSC Ensembl
Outerchr1:150860250..150862809hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382552
hg192552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145211, essv10145196, essv10145197, essv10145226, essv10145213, essv10145202, essv10145203, essv10145222, essv10145205, essv10145200, essv10145198, essv10145228, essv10145206, essv10145215, essv10145225, essv10145212, essv10145199, essv10145223, essv10145201, essv10145229, essv10145217, essv10145209, essv10145221, essv10145230, essv10145210, essv10145207, essv10145208, essv10145219, essv10145216, essv10145204, essv10145231, essv10145227, essv10145224, essv10145214, essv10145220, essv10145218
SamplesNA20853, NA20508, HG03237, HG00181, HG01465, HG00103, NA20517, HG00356, HG03736, HG04182, HG00346, NA12761, HG01067, HG02420, HG00739, HG01699, HG00137, HG01183, NA20535, NA20800, HG03718, HG04039, NA20809, HG01684, NA20832, HG01762, HG01130, HG04063, NA12144, NA20542, HG00119, HG03019, NA20528, NA18623, HG00554, NA12776
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587515
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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