A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676872



Internal ID9942977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41131749..41148030hg38UCSC Ensembl
Outerchr12:41131712..41148080hg38UCSC Ensembl
Innerchr12:41525551..41541832hg19UCSC Ensembl
Outerchr12:41525514..41541882hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3816369
hg1916369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6059759
SamplesNA19390
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676872
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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