A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34290



Internal ID12990329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33406261..34032878hg38UCSC Ensembl
Innerchr19:33897167..34523783hg19UCSC Ensembl
Innerchr19:38589007..39215623hg18UCSC Ensembl
Innerchr19:38589007..39215623hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38626618
hg19626617
hg18626617
hg17626617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv139e55
Supporting Variantsessv6986975, essv6979943, essv6990426, essv6979944, essv6979942
SamplesNA18862
Known GenesCHST8, KCTD15, PEPD
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)esv34290
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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