A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672780



Internal ID9938885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2623465..2624989hg38UCSC Ensembl
chr2:2627237..2628761hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381525
hg191525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5729991, essv5470603, essv6360858, essv5433491, essv6437260, essv6455608, essv5907588, essv5865859, essv5638966
SamplesNA20752, NA12058, HG00737, HG00106, HG01384, NA20505, HG00638, HG01491, NA19726
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672780
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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