A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34808



Internal ID12990844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:41804437..41852737hg38UCSC Ensembl
Innerchr18:39384402..39432702hg19UCSC Ensembl
Innerchr18:37638400..37686700hg18UCSC Ensembl
Innerchr18:37638400..37686700hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3848301
hg1948301
hg1848301
hg1748301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988990, essv6978007
SamplesNA10856
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)esv34808
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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