A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673439



Internal ID9939544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118466053..118476252hg38UCSC Ensembl
Outerchr2:118466016..118476302hg38UCSC Ensembl
Innerchr2:119223629..119233828hg19UCSC Ensembl
Outerchr2:119223592..119233878hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3810287
hg1910287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6047004, essv6565810
SamplesNA19914, NA19311
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673439
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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