A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657762



Internal ID9923867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:24941303..24943609hg38UCSC Ensembl
Outerchr8:24940932..24943979hg38UCSC Ensembl
Innerchr8:24798816..24801122hg19UCSC Ensembl
Outerchr8:24798445..24801492hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5452077, essv5605186, essv6436272, essv6177634, essv5520236, essv5782409, essv6480306, essv5974122, essv6204396, essv5403734, essv6193102, essv5927066, essv6580977, essv5727044, essv5574334, essv6437272, essv5566484, essv6114595, essv6094663, essv6177418, essv6349373, essv6545287, essv5490126, essv5737063, essv5943547, essv6110519, essv5968592, essv5802255, essv5701456, essv5479884, essv5932895, essv6223185, essv6404519, essv5831962, essv5778957, essv6428159, essv6339111, essv6117237, essv5613101, essv5567425, essv6233451, essv6447681, essv5593914, essv5793428
SamplesNA19359, NA19443, NA19446, NA19382, NA19448, NA19457, NA19313, NA19384, NA19404, NA19383, NA19371, NA19471, NA19456, NA19445, NA19451, NA19437, NA19462, NA19327, NA19455, NA19461, NA19449, NA19453, NA19452, NA19469, NA19395, NA19436, NA19440, NA19434, NA19435, NA19334, NA19470, NA19311, NA19467, NA19398, NA19438, NA19472, NA19468, NA19474, NA19430, NA19312, NA19463, NA19429, NA19346, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657762
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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