A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659646



Internal ID9579065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63513963..63516927hg38UCSC Ensembl
Outerchr2:63513806..63517080hg38UCSC Ensembl
Innerchr2:63741097..63744061hg19UCSC Ensembl
Outerchr2:63740940..63744214hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg383275
hg193275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6399868, essv5899960
SamplesNA18498, NA19462
Known GenesWDPCP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659646
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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