A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978357



Internal ID12981851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71910084..72215185hg38UCSC Ensembl
Innerchr18:69577320..69882420hg19UCSC Ensembl
Innerchr18:67728300..68033400hg18UCSC Ensembl
Innerchr18:67728300..68033400hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38305102
hg19305101
hg18305101
hg17305101
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978357
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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