A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574730



Internal ID18356242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:136538974..136543060hg38UCSC Ensembl
InnerchrX:135621133..135625219hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg384087
hg194087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2478e212
Supporting Variantsessv9832164, essv9832172, essv9832174, essv9832173, essv9832162, essv9832171, essv9832166, essv9832170, essv9832169, essv9832163, essv9832167, essv9832168, essv9832161
Samples400534ME, 400482MD, 400353ML, 401994BD, 400265LK, 400724CD, 400721DJ, 400671PP, 400471YS, 401567BD, 400271SR, 401735LE, 401254AE
Known GenesVGLL1
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)esv3574730
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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