A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673867



Internal ID9939972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128063960..128069570hg38UCSC Ensembl
Outerchr2:128063923..128069620hg38UCSC Ensembl
Innerchr2:128821534..128827144hg19UCSC Ensembl
Outerchr2:128821497..128827194hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385698
hg195698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6364828, essv6261009, essv5868990
SamplesNA19394, NA18507, NA19468
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673867
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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