A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592806



Internal ID6980133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:146654074..146656926hg38UCSC Ensembl
Innerchr2:146654074..146656926hg38UCSC Ensembl
Outerchr2:146653835..146657178hg38UCSC Ensembl
chr2:147411642..147414494hg19UCSC Ensembl
Innerchr2:147411642..147414494hg19UCSC Ensembl
Outerchr2:147411403..147414746hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg382853
hg192853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10705228, essv10705223, essv10705226, essv10705225, essv10705227, essv10705224
SamplesNA19058, NA19089, NA19081, NA18952, NA18989, NA19065
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592806
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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