A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581365



Internal ID18709563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87807672..87817277hg38UCSC Ensembl
Innerchr14:88274016..88283621hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg389606
hg199606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9807086, essv9807083, essv9807078, essv9807091, essv9807068, essv9807097, essv9807076, essv9807092, essv9807081, essv9807095, essv9807096, essv9807093, essv9807090, essv9807094, essv9807098, essv9807084, essv9807082, essv9807067, essv9807074, essv9807080, essv9807085, essv9807070, essv9807071, essv9807087, essv9807079, essv9807073, essv9807069, essv9807072, essv9807075
Samples401799DP, 401465TB, 400926LJ, 400336BG, 400876OG, 401503MJ, 400379BB, 401766MR, 401801LA, 400060MC, 401726LW, 401027KW, 400207HN, 401594MP, 401618HR, 401084BD, 401943KA, 400248JO, 401711WS, 400571WV, 400520FM, 401176BD, 400881GS, 401438HT, 400778SR, 400013TA, 401510DG, 400243CK, 400668TD
Known Genes
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)esv3581365
Frequency
Sample Size873
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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