A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2477e212



Internal ID22785404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136350778..136358090hg38UCSC Ensembl
chrX:135432937..135440249hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg387313
hg197313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577406, esv3577407, esv3577404, esv3577403
Samples400908PJ, 401819BS, 400917CG, 400377WJ, 400876OG, 400956AM, 401719RL, 400199SA, 400509CJ, 400051MR, 400688FL, 400460DM, 400356MC, 401038LN, 402061PI, 400502GS, 400663MD, 400285FA, 401930GD, 401478RD, 400361HC, 400524NJ, 400319HT, 401259LS, 400818BL, 400601WC, 401611CD, 400849SH, 400835FD, 400213DB
Known GenesGPR112
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)dgv2477e212
Frequency
Sample Size873
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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