A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656668



Internal ID2889755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42447687..42448236hg38UCSC Ensembl
Outerchr8:42447650..42448286hg38UCSC Ensembl
Innerchr8:42305205..42305754hg19UCSC Ensembl
Outerchr8:42305168..42305804hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6254577
SamplesNA19716
Known GenesSLC20A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656668
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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