A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5029527



Internal ID7773385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64963532..64964114hg38UCSC Ensembl
Innerchr1:65429215..65429797hg19UCSC Ensembl
Innerchr1:65201803..65202385hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38583
hg19583
hg18583
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421783
Supporting Variants
SamplesNA20894
Known GenesJAK1
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)essv5029527
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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