A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5058985



Internal ID7802843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18559730..18739886hg38UCSC Ensembl
Innerchr16:18571052..18751208hg19UCSC Ensembl
Innerchr16:18478553..18658709hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38180157
hg19180157
hg18180157
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421404
Supporting Variants
SamplesNA18127
Known GenesABCC6P1, NOMO2
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5058985
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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