A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5018508



Internal ID7762366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73532272..73561413hg38UCSC Ensembl
Innerchr14:73998976..74028117hg19UCSC Ensembl
Innerchr14:73068729..73097870hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3829142
hg1929142
hg1829142
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421969
Supporting Variants
SamplesNA20509
Known GenesACOT1, HEATR4
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)essv5018508
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer