A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675249



Internal ID9941354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208105245..208109202hg38UCSC Ensembl
Outerchr2:208105208..208109252hg38UCSC Ensembl
Innerchr2:208969969..208973926hg19UCSC Ensembl
Outerchr2:208969932..208973976hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384045
hg194045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6393852, essv6267025, essv5962399
SamplesHG00592, NA20508, HG00273
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675249
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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