A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658617



Internal ID9924722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:180451974..180454406hg38UCSC Ensembl
Outerchr2:180451817..180454559hg38UCSC Ensembl
Innerchr2:181316701..181319133hg19UCSC Ensembl
Outerchr2:181316544..181319286hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg382743
hg192743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6199507, essv5863670
SamplesNA19681, NA19652
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658617
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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