A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5142945



Internal ID7886803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35537534..35597034hg38UCSC Ensembl
Innerchr6:35505311..35564811hg19UCSC Ensembl
Innerchr6:35613289..35672789hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3859501
hg1959501
hg1859501
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421382
Supporting Variants
SamplesNA19109
Known GenesFKBP5
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)essv5142945
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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