A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657823



Internal ID9923928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62508803..62534254hg38UCSC Ensembl
Outerchr2:62508646..62534407hg38UCSC Ensembl
Innerchr2:62735938..62761389hg19UCSC Ensembl
Outerchr2:62735781..62761542hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3825762
hg1925762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6321648, essv6306262, essv5819678, essv5728257, essv5623974, essv6179268
SamplesNA19355, NA19437, NA19449, NA19338, NA19473, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657823
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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