A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421480



Internal ID8251928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241915920..242147305hg38UCSC Ensembl
Innerchr2:242858071..243089456hg19UCSC Ensembl
Innerchr2:242506744..242738129hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38231386
hg19231386
hg18231386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5132862, essv5106409, essv5082988, essv5023665, essv5032965, essv5101142, essv5111155, essv5095633, essv5074239, essv5071535, essv5117401, essv5149245, essv5033425, essv5062217, essv5068819, essv5120421, essv5135820, essv5084726, essv5105424
SamplesNA12248, NA12813, NA12283, NA20819, NA20340, NA20892, NA12760, NA07045, NA20866, NA20828, NA21117, NA06997, NA19147, NA20870, NA19376, NA20582, NA20510, NA12875, NA19148
Known GenesLOC728323
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)esv2421480
Frequency
Sample Size1184
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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