A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585900



Internal ID347479
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274867
Supporting Variants
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)essv2585900
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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