A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1903e212



Internal ID22784830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43588031..43591768hg38UCSC Ensembl
chr7:43627630..43631367hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383738
hg193738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571822, esv3571816, esv3571818
Samples401636WR, 400439IM, 400737GC, 400622SJ, 401427CB, 401151RJ, 401190WC, 401064FR, 400022WA, 400121PL, 402056KD, 401609MB, 400502GS, 401377MA, 400663MD, 401714BM, 401437MJ, 400660GK, 400829MR, 4000657TM, 402054BD, 401067BD, 400354TJ, 40050SB, 401112LG, 400518MS, 400454RE, 401898DS, 400930MK, 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)dgv1903e212
Frequency
Sample Size873
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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