A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275450



Internal ID348356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:37451719..37452009hg38UCSC Ensembl
Outerchr8:37451254..37455131hg38UCSC Ensembl
Innerchr8:37309237..37309527hg19UCSC Ensembl
Outerchr8:37308772..37312649hg19UCSC Ensembl
Innerchr8:37428395..37428685hg18UCSC Ensembl
Outerchr8:37427930..37431807hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg383878
hg193878
hg183878
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585707, essv2585674
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)esv275450
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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