A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676137



Internal ID9595556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6867404..6867946hg38UCSC Ensembl
chr2:7007535..7008077hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6446839
SamplesNA19007
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676137
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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