A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5020600



Internal ID7764458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:36352224..36356596hg38UCSC Ensembl
Innerchr19:36843126..36847498hg19UCSC Ensembl
Innerchr19:41534966..41539338hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg384373
hg194373
hg184373
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421498
Supporting Variants
SamplesNA19777
Known GenesZFP14
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)essv5020600
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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