A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668515



Internal ID9934620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142501490..142501869hg38UCSC Ensembl
Outerchr8:142501453..142501919hg38UCSC Ensembl
Innerchr8:143582851..143583230hg19UCSC Ensembl
Outerchr8:143582814..143583280hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6282136, essv5993558, essv6585785, essv6231287, essv6130988, essv5671618, essv6451488, essv6187628, essv5439914, essv6195415, essv6268823, essv6058845, essv5443180, essv5397864, essv6234700, essv5546995, essv6008817, essv6520140, essv6423819, essv6567354
SamplesNA19399, HG01188, NA19443, HG01051, NA18498, NA19130, NA18868, NA19462, NA19663, HG00331, HG00684, NA19452, NA18523, HG00258, NA19390, HG00256, NA19818, NA19716, NA19213, NA18522
Known GenesBAI1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668515
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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