A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577765



Internal ID18359277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19931353..19945094hg38UCSC Ensembl
Innerchr1:20257846..20271587hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3813742
hg1913742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv22e212
Supporting Variantsessv9806310, essv9805866, essv9805755, essv9805977, essv9805310, essv9805421, essv9806532, essv9806421, essv9806088, essv9806199, essv9805644, essv9805533
Samples401503MJ, 400730SH, 401434VN, 400855BD, 402038MR, 401184MM, 400871CM, 401091HS, 401333MM, 401475MK, 401875FG, 400295PS
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)esv3577765
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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