A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421431



Internal ID7905193
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5082074, essv5107669, essv5090150, essv5009686, essv5040664, essv5046702, essv5101757, essv5105168, essv5148783, essv5085309, essv5112936, essv5063580
SamplesNA19237, NA19180, NA19915, NA19235, NA19097, NA19179, NA20276, NA18500, NA19096, NA19213, NA20345, NA18511
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)esv2421431
Frequency
Sample Size1184
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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