A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574604



Internal ID18702802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:134509633..134519987hg38UCSC Ensembl
InnerchrX:133643663..133654017hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3810355
hg1910355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2430e212
Supporting Variantsessv9830633, essv9830624, essv9830635, essv9830616, essv9830619, essv9830631, essv9830613, essv9830618, essv9830630, essv9830615, essv9830629, essv9830634, essv9830625, essv9830636, essv9830623, essv9830627, essv9830620, essv9830614, essv9830617, essv9830626, essv9830612, essv9830628, essv9830622
Samples401285HN, 401841OB, 401698SB, 401308LD, 401936BA, 401780BB, 401801LA, 401997HB, 401376RD, 401499JR, 401589HP, 400207HN, 400660GK, 401494PD, 400829MR, 401930GD, 401039PA, 400136DM, 400471YS, 400246MG, 401847RK, 400205SP, 400291VJ
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)esv3574604
Frequency
Sample Size873
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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