A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35041



Internal ID12991077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71910057..72220902hg38UCSC Ensembl
Innerchr18:69577293..69888137hg19UCSC Ensembl
Innerchr18:67728273..68039117hg18UCSC Ensembl
Innerchr18:67728273..68039117hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38310846
hg19310845
hg18310845
hg17310845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978356, essv6987378, essv6978357, essv6987379, essv6978358
SamplesNA19007
Known Genes
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)esv35041
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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