A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660445



Internal ID9926550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40537753..40544815hg38UCSC Ensembl
Outerchr2:40537596..40544968hg38UCSC Ensembl
Innerchr2:40764893..40771955hg19UCSC Ensembl
Outerchr2:40764736..40772108hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg387373
hg197373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6596847, essv5827054, essv6498281
SamplesNA19381, NA19338, NA19102
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660445
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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