A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5005861



Internal ID7749719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189645889..189648974hg38UCSC Ensembl
Innerchr3:189363678..189366763hg19UCSC Ensembl
Innerchr3:190846372..190849457hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg383086
hg193086
hg183086
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422067
Supporting Variants
SamplesNA19210
Known GenesTP63
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)essv5005861
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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