A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2171e212



Internal ID22785098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100973772..100999164hg38UCSC Ensembl
chr9:103736054..103761446hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3825393
hg1925393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573315, esv3573316, esv3573314
Samples400622SJ, 401918CA, 400066MA, 400051MR, 400416KA, 401504RJ, 400705KK, 401981GF, 400788PV, 400069CN
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)dgv2171e212
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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