A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574289



Internal ID18702487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:107867492..107868962hg38UCSC Ensembl
InnerchrX:107110722..107112192hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg381471
hg191471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2359e212
Supporting Variantsessv9828143, essv9828145, essv9828146, essv9828148, essv9828160, essv9828159, essv9828151, essv9828153, essv9828157, essv9828150, essv9828154, essv9828149, essv9828152, essv9828147, essv9828158, essv9828156
Samples401498HH, 401117NA, 401899MB, 400553PP, 401500OM, 401214BJ, 401596PJ, 401977ES, 401870FB, 401210PB, 401526WB, 401943KA, 401606CG, 400278PD, 401307VR, 401149VA
Known GenesMID2
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)esv3574289
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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