A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571010



Internal ID18699208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:36476139..36486569hg38UCSC Ensembl
Innerchr6:36443916..36454346hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3810431
hg1910431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1761e212
Supporting Variantsessv9779119, essv9779105, essv9779120, essv9779098, essv9779114, essv9779097, essv9779102, essv9779109, essv9779117, essv9779118, essv9779110, essv9779106, essv9779125, essv9779126, essv9779099, essv9779103, essv9779100, essv9779104, essv9779121, essv9779107, essv9779116, essv9779115, essv9779124, essv9779111, essv9779122, essv9779113, essv9779108
Samples400649PS, 401911FL, 401966SR, 400553PP, 400325BE, 401721CP, 400675HC, 400127MD, 400733SW, 400411TG, 401726LW, 401591BE, 401026AM, 401563TK, 401419SW, 400361HC, 400888MS, 401898DS, 401958MF, 401149VA, 400312CR, 401861GG, 400930MK, 402073LQ, 400879DS, 400785AK, 400021ME
Known GenesKCTD20
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3571010
Frequency
Sample Size873
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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