A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589950



Internal ID6977278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17788224..17798291hg38UCSC Ensembl
Innerchr2:17788224..17798291hg38UCSC Ensembl
Outerchr2:17787989..17798491hg38UCSC Ensembl
chr2:17969491..17979558hg19UCSC Ensembl
Innerchr2:17969491..17979558hg19UCSC Ensembl
Outerchr2:17969256..17979758hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3810068
hg1910068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10420924, essv10420925
SamplesNA19920, NA19834
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589950
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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