A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751775



Internal ID12985327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:1897929..2007870hg38UCSC Ensembl
Innerchr18:1897930..2007871hg19UCSC Ensembl
Innerchr18:1887930..1997871hg18UCSC Ensembl
Innerchr18:1887930..1997871hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38109942
hg19109942
hg18109942
hg17109942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989809, essv6983543
SamplesBEC_667
Known Genes
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)esv2751775
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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