A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664470



Internal ID9930575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100572528..100574087hg38UCSC Ensembl
Outerchr1:100572371..100574240hg38UCSC Ensembl
Innerchr1:101038084..101039643hg19UCSC Ensembl
Outerchr1:101037927..101039796hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg381870
hg191870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5674767, essv5818025, essv5448828, essv6365849, essv6242223, essv5563631, essv5660343, essv5612827, essv5792636
SamplesNA19457, NA19384, NA19235, NA19908, NA19247, NA19401, NA19375, NA19380, NA19248
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664470
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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