A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421382



Internal ID8251830
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5037877, essv5094566, essv5114831, essv5063449, essv5145767, essv5123205, essv5142945, essv5019961, essv5066149, essv5074015, essv5155824, essv5084627, essv5149170, essv5121429
SamplesNA20300, NA19107, NA19197, NA19199, NA18874, NA19172, NA19200, NA19202, NA21826, NA19182, NA19818, NA19109, NA19173, NA19316
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)esv2421382
Frequency
Sample Size1184
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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