A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5040101



Internal ID8241305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:515616..526993hg38UCSC Ensembl
Innerchr9:515616..526993hg19UCSC Ensembl
Innerchr9:505616..516993hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3811378
hg1911378
hg1811378
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421734
Supporting Variants
SamplesNA21490
Known GenesKANK1
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)essv5040101
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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