A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5026636



Internal ID7770494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31817451..31829645hg38UCSC Ensembl
Innerchr6:31785228..31797422hg19UCSC Ensembl
Innerchr6:31893207..31905401hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3812195
hg1912195
hg1812195
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421830
Supporting Variants
SamplesNA19381
Known GenesHSPA1A, HSPA1B
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)essv5026636
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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