A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275018



Internal ID347924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:57984357..57984447hg38UCSC Ensembl
Outerchr1:57983212..57984784hg38UCSC Ensembl
Innerchr1:58450029..58450119hg19UCSC Ensembl
Outerchr1:58448884..58450456hg19UCSC Ensembl
Innerchr1:58222617..58222707hg18UCSC Ensembl
Outerchr1:58221472..58223044hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381573
hg191573
hg181573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586114
Samples
Known GenesDAB1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275018
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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