A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660197



Internal ID9926302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43003750..43004445hg38UCSC Ensembl
chr2:43230890..43231585hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6095041, essv6175956, essv6350954, essv5467700, essv6220246, essv5894615, essv6321187, essv6052630
SamplesNA19058, NA19055, NA18980, NA18940, NA18617, HG00629, NA19070, NA18983
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660197
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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