A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34787



Internal ID12990823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:153764521..154031059hg38UCSC Ensembl
Innerchr7:153461606..153728144hg19UCSC Ensembl
Innerchr7:153092539..153359077hg18UCSC Ensembl
Innerchr7:152899254..153165792hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38266539
hg19266539
hg18266539
hg17266539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv238e55
Supporting Variantsessv6990405, essv6979771, essv6986936, essv6979769, essv6979770
SamplesNA18623
Known GenesDPP6
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)esv34787
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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