A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751776



Internal ID12638642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31390184..31477756hg38UCSC Ensembl
Innerchr18:28970147..29057719hg19UCSC Ensembl
Innerchr18:27224145..27311717hg18UCSC Ensembl
Innerchr18:27224145..27311717hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3887573
hg1987573
hg1887573
hg1787573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983124, essv6983123, essv6983125
SamplesBEC_544
Known GenesDSG3, DSG4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751776
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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