A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422175



Internal ID8252623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:142872919..142879820hg38UCSC Ensembl
Innerchr4:143794072..143800973hg19UCSC Ensembl
Innerchr4:144013522..144020423hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg386902
hg196902
hg186902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5050468, essv5103248, essv5145425, essv5051746, essv5072227, essv5115212, essv5126025, essv5003887, essv5047783, essv5058541, essv5112434, essv5059864, essv5095940, essv5038169, essv5117696, essv5118202
SamplesNA18855, NA18935, NA18860, NA21479, NA20343, NA20342, NA19209, NA19200, NA21480, NA18934, NA18871, NA18858, NA20319, NA19140, NA21685, NA19211
Known Genes
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)esv2422175
Frequency
Sample Size1184
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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