A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34327



Internal ID12990366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829877..6095283hg38UCSC Ensembl
Innerchr8:3687399..5952805hg19UCSC Ensembl
Innerchr8:3674807..5940213hg18UCSC Ensembl
Innerchr8:3674807..5940213hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382265407
hg192265407
hg182265407
hg172265407
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv242e55
Supporting Variantsessv6978155, essv6990202, essv6978156, essv6978158, essv6978157
SamplesNA18972
Known GenesCSMD1
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)esv34327
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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