A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571816



Internal ID18700014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43588031..43591756hg38UCSC Ensembl
Innerchr7:43627630..43631355hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383726
hg193726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1903e212
Supporting Variantsessv9783506, essv9783513, essv9783525, essv9783524, essv9783505, essv9783508, essv9783521, essv9783496, essv9783501, essv9783504, essv9783510, essv9783503, essv9783509, essv9783523, essv9783519, essv9783497, essv9783516, essv9783495, essv9783518, essv9783494, essv9783517, essv9783514, essv9783507, essv9783498, essv9783515, essv9783512, essv9783520, essv9783502, essv9783499
Samples401636WR, 400439IM, 400737GC, 400622SJ, 401190WC, 401064FR, 400022WA, 402056KD, 401609MB, 400502GS, 401377MA, 401714BM, 401437MJ, 400660GK, 400829MR, 4000657TM, 401067BD, 400354TJ, 40050SB, 401112LG, 400518MS, 400454RE, 401898DS, 401358VP, 401453OL, 401480PG, 400238BB, 401066MM, 400801HS
Known GenesSTK17A
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)esv3571816
Frequency
Sample Size873
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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