A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988990



Internal ID12978463
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 StatusS
Merged Variantsesv34808
Supporting Variants
SamplesNA10856
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988990
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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