A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421594



Internal ID8252042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:91318603..91325252hg38UCSC Ensembl
Innerchr5:90614420..90621069hg19UCSC Ensembl
Innerchr5:90650176..90656825hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386650
hg196650
hg186650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5113173, essv5125742, essv5006005, essv5040274, essv5060801, essv5017421, essv5131574, essv5093679, essv5095596, essv5090945, essv5086095, essv5133922, essv5140302, essv5092728, essv5126026, essv5056561, essv5074345, essv5050255, essv5096116, essv5009809, essv5110168, essv5003831
SamplesNA21577, NA18862, NA18935, NA19819, NA21776, NA19319, NA18916, NA20288, NA19130, NA19041, NA19207, NA18867, NA18934, NA19455, NA19208, NA19150, NA19151, NA19469, NA21573, NA18863, NA20281, NA20348
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)esv2421594
Frequency
Sample Size1184
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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