A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5118566



Internal ID8198712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21994022..22004046hg38UCSC Ensembl
Innerchr1:22320515..22330539hg19UCSC Ensembl
Innerchr1:22193102..22203126hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3810025
hg1910025
hg1810025
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422105
Supporting Variants
SamplesNA20126
Known GenesCELA3A
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)essv5118566
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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