A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664813



Internal ID9930918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67439452..67440292hg38UCSC Ensembl
Outerchr8:67439413..67440349hg38UCSC Ensembl
Innerchr8:68351687..68352527hg19UCSC Ensembl
Outerchr8:68351648..68352584hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38937
hg19937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5431387, essv6558305, essv5879233, essv5516262, essv5459802, essv6257619, essv6003961, essv6172331, essv6301229, essv6496112, essv6012873, essv5721147
SamplesNA18870, NA18563, NA20798, NA11918, NA18964, NA11930, NA20812, NA12748, NA10847, NA18912, NA18593, NA12046
Known GenesCPA6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664813
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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