A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275419



Internal ID348325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150590730..150590730hg38UCSC Ensembl
Outerchr2:150590549..150595528hg38UCSC Ensembl
Innerchr2:151447244..151447244hg19UCSC Ensembl
Outerchr2:151447063..151452042hg19UCSC Ensembl
Innerchr2:151155490..151155490hg18UCSC Ensembl
Outerchr2:151155309..151160288hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg384980
hg194980
hg184980
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585418, essv2585416
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275419
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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