A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573629



Internal ID18355141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:19441032..19454127hg38UCSC Ensembl
InnerchrX:19459150..19472245hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3813096
hg1913096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9824106, essv9824099, essv9824103, essv9824081, essv9824094, essv9824109, essv9824091, essv9824098, essv9824083, essv9824107, essv9824101, essv9824108, essv9824085, essv9824084, essv9824102, essv9824092, essv9824087, essv9824096, essv9824093, essv9824090, essv9824095, essv9824082, essv9824104, essv9824086, essv9824105, essv9824097
Samples400300SD, 400534ME, 400949AM, 401942MP, 400075MR, 400507VD, 401783BD, 400996MC, 401210PB, 401952UH, 400893ZE, 401297KC, 402038MR, 401696CG, 400307HW, 400053LE, 401874DJ, 401732HW, 401596PJ, 401066MM, 401191MI, 401939GD, 401190WC, 401087SF, 401413RG, 401513KC
Known GenesMAP3K15
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)esv3573629
Frequency
Sample Size873
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer