A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660044



Internal ID9926149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94626232..94627570hg38UCSC Ensembl
Outerchr8:94626075..94627723hg38UCSC Ensembl
Innerchr8:95638460..95639798hg19UCSC Ensembl
Outerchr8:95638303..95639951hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381649
hg191649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5848073, essv5464775, essv5614997, essv5402519, essv5687219, essv6367377, essv5464061, essv6364199, essv6309081
SamplesNA18486, NA19247, HG01102, NA19257, HG01075, HG01108, NA19248, NA19116, NA19316
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660044
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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