A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674794



Internal ID9940899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61055011..61058422hg38UCSC Ensembl
Outerchr2:61054854..61058588hg38UCSC Ensembl
Innerchr2:61282146..61285557hg19UCSC Ensembl
Outerchr2:61281989..61285723hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383735
hg193735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5643606, essv6187969, essv5722814, essv6090247, essv5538704
SamplesNA19701, NA20291, NA19235, NA18912, NA19129
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674794
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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