A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5148691



Internal ID8204374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:122047592..122048823hg38UCSC Ensembl
Innerchr8:123059831..123061062hg19UCSC Ensembl
Innerchr8:123129012..123130243hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381232
hg191232
hg181232
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422085
Supporting Variants
SamplesNA20350
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)essv5148691
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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