A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5126609



Internal ID7870467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23547272..23550392hg38UCSC Ensembl
Innerchr8:23404785..23407905hg19UCSC Ensembl
Innerchr8:23460730..23463850hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383121
hg193121
hg183121
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421786
Supporting Variants
SamplesNA18153
Known GenesSLC25A37
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)essv5126609
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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