A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422042



Internal ID8252491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:180349270..180352796hg38UCSC Ensembl
Innerchr4:181270423..181273949hg19UCSC Ensembl
Innerchr4:181507417..181510943hg18UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg383527
hg193527
hg183527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5104333, essv5023788, essv5128119, essv5129867, essv5040344, essv5049994, essv5121230, essv5137792, essv5159871, essv5072033, essv5147940, essv5135975, essv5026400, essv5070959, essv5106788, essv5027161
SamplesNA19914, NA21399, NA21405, NA19197, NA19915, NA19235, NA19207, NA19175, NA19208, NA21573, NA19380, NA19144, NA19334, NA19117, NA19713, NA18500
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)esv2422042
Frequency
Sample Size1184
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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