A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5066001



Internal ID8231641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248576215..248633912hg38UCSC Ensembl
Innerchr1:248739516..248797213hg19UCSC Ensembl
Innerchr1:246806139..246863836hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3857698
hg1957698
hg1857698
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421359
Supporting Variants
SamplesNA21356
Known GenesOR2T10, OR2T11
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)essv5066001
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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