A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667782



Internal ID9933887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:20691600..20692913hg38UCSC Ensembl
Outerchr1:20691561..20692970hg38UCSC Ensembl
Innerchr1:21018093..21019406hg19UCSC Ensembl
Outerchr1:21018054..21019463hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381410
hg191410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5731404, essv5780664, essv6369625, essv5691986, essv5863408, essv6557917, essv6400707, essv6214188, essv5780634, essv5928540, essv5646836, essv6494223, essv6092160, essv5883895, essv5602906, essv6182331, essv5547289, essv5658876, essv6414528, essv6292798, essv5525773, essv6550563, essv6594100, essv5798637
SamplesNA20761, NA18550, NA18519, NA18547, NA12348, NA12761, NA11930, NA20812, NA11932, NA11994, NA12889, NA12748, NA10847, NA18956, NA18572, NA12829, NA18912, NA18853, NA12827, NA18608, NA18952, NA18943, NA18522, NA20772
Known GenesKIF17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667782
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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