A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34905



Internal ID12644255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225443702..225488880hg38UCSC Ensembl
Innerchr1:225631404..225676582hg19UCSC Ensembl
Innerchr1:223698027..223743205hg18UCSC Ensembl
Innerchr1:221938139..221983317hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3845179
hg1945179
hg1845179
hg1745179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990403, essv6979748
SamplesNA18621
Known GenesENAH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34905
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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