A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274867



Internal ID347827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:106789932..106793826hg38UCSC Ensembl
Outerchr1:106789257..106797031hg38UCSC Ensembl
Innerchr1:107332554..107336448hg19UCSC Ensembl
Outerchr1:107331879..107339653hg19UCSC Ensembl
Innerchr1:107134077..107137971hg18UCSC Ensembl
Outerchr1:107133402..107141176hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg387775
hg197775
hg187775
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585120, essv2585900
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)esv274867
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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