A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677981



Internal ID9944086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219889290..219895615hg38UCSC Ensembl
chr2:220754011..220760336hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386326
hg196326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5726279, essv6157423
SamplesHG00247, HG00262
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677981
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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