A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617102



Internal ID7003988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47733497..47734681hg38UCSC Ensembl
Innerchr8:47733497..47734681hg38UCSC Ensembl
Outerchr8:47733188..47735011hg38UCSC Ensembl
chr8:48646059..48647243hg19UCSC Ensembl
Innerchr8:48646059..48647243hg19UCSC Ensembl
Outerchr8:48645750..48647573hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13192394, essv13192414, essv13192405, essv13192401, essv13192382, essv13192392, essv13192390, essv13192386, essv13192385, essv13192408, essv13192393, essv13192413, essv13192404, essv13192406, essv13192387, essv13192388, essv13192389, essv13192384, essv13192412, essv13192400, essv13192379, essv13192380, essv13192402, essv13192383, essv13192391, essv13192396, essv13192399, essv13192409, essv13192398, essv13192403, essv13192397, essv13192411, essv13192381, essv13192407, essv13192410, essv13192395
SamplesHG01985, HG02652, HG02628, HG03965, HG03960, NA20899, HG03015, HG03616, NA21115, HG03082, HG03016, HG03673, HG03045, HG03225, NA19451, HG03718, HG03907, HG04039, HG03760, HG03491, HG03159, NA20867, HG03451, HG02601, HG03653, NA21087, HG04006, HG03875, HG03304, HG03019, NA20887, NA20906, NA20897, NA21088, HG03856, HG02760
Known GenesSPIDR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617102
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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