A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275511



Internal ID348417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3497036..3511766hg38UCSC Ensembl
Outerchr2:3495112..3515968hg38UCSC Ensembl
Innerchr2:3500807..3515537hg19UCSC Ensembl
Outerchr2:3498883..3519739hg19UCSC Ensembl
Innerchr2:3479814..3494545hg18UCSC Ensembl
Outerchr2:3477890..3498747hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3820857
hg1920857
hg1820858
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585126, essv2585309
Samples
Known GenesADI1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275511
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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