A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5009686



Internal ID7753544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208370648..208382496hg38UCSC Ensembl
Innerchr2:209235373..209247221hg19UCSC Ensembl
Innerchr2:208943618..208955466hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3811849
hg1911849
hg1811849
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421431
Supporting Variants
SamplesNA20345
Known GenesPTH2R
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)essv5009686
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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