A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978358



Internal ID12981844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71919786..72194120hg38UCSC Ensembl
Innerchr18:69587022..69861355hg19UCSC Ensembl
Innerchr18:67738002..68012335hg18UCSC Ensembl
Innerchr18:67738002..68012335hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38274335
hg19274334
hg18274334
hg17274334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35041
Supporting Variants
SamplesNA19007
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978358
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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