A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421437



Internal ID8251885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210431402..210440272hg38UCSC Ensembl
Innerchr1:210604746..210613616hg19UCSC Ensembl
Innerchr1:208671369..208680239hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg388871
hg198871
hg188871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5053282, essv5055585, essv5093709, essv5113616, essv5021859, essv5054433, essv5065423, essv5091852, essv5131715, essv5045329, essv5085125, essv5142834, essv5005621, essv5150439, essv5141876, essv5097481, essv5146125, essv5099353, essv5099042, essv5065649, essv5017139, essv5108870, essv5043492
SamplesNA21524, NA19204, NA20332, NA20356, NA20288, NA19123, NA19471, NA19403, NA19161, NA19327, NA19176, NA20358, NA19097, NA21295, NA19718, NA19160, NA19095, NA20333, NA19143, NA19472, NA19468, NA19213, NA19121
Known GenesHHAT
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)esv2421437
Frequency
Sample Size1184
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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