A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421355



Internal ID8251803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143920939..144029040hg38UCSC Ensembl
Innerchr4:144842092..144950193hg19UCSC Ensembl
Innerchr4:145061542..145169643hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38108102
hg19108102
hg18108102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5030198, essv5024444, essv5011572, essv5149455, essv5160099, essv5033405, essv5113937, essv5103991, essv5139354, essv5051281, essv5062649, essv5081806, essv5054099, essv5093918, essv5086083, essv5034957, essv5084475, essv5109069, essv5046698, essv5085342, essv5076718, essv5150700, essv5143947, essv5064288, essv5109339, essv5077468, essv5038736, essv5151130, essv5131768, essv5095366, essv5092853, essv5055529, essv5052822, essv5025790, essv5143988, essv5154503, essv5075194, essv5068319, essv5153736
SamplesNA19394, NA18497, NA19249, NA18917, NA21693, NA19443, NA18519, NA19383, NA19123, NA20349, NA19235, NA19207, NA21716, NA19901, NA19027, NA19788, NA20344, NA19221, NA19150, NA18518, NA19181, NA19151, NA18499, NA21295, NA18930, NA19113, NA19436, NA06995, NA19115, NA19790, NA19398, NA20302, NA19248, NA07435, NA19223, NA19093, NA19102, NA19121, NA18852
Known GenesGYPB
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)esv2421355
Frequency
Sample Size1184
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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