A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5003555



Internal ID7747413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12781785..12911989hg38UCSC Ensembl
Innerchr1:12841928..12971833hg19UCSC Ensembl
Innerchr1:12764515..12894420hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38130205
hg19129906
hg18129906
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421662
Supporting Variants
SamplesNA18144
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4
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)essv5003555
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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