A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574321



Internal ID18702519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:114740469..114750691hg38UCSC Ensembl
InnerchrX:113974876..113985130hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3810223
hg1910255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9828384, essv9828392, essv9828375, essv9828389, essv9828374, essv9828393, essv9828380, essv9828387, essv9828371, essv9828369, essv9828397, essv9828364, essv9828370, essv9828378, essv9828372, essv9828385, essv9828391, essv9828373, essv9828383, essv9828400, essv9828376, essv9828381, essv9828379, essv9828382, essv9828394, essv9828368, essv9828395, essv9828398, essv9828396, essv9828386, essv9828390, essv9828367, essv9828365
Samples401459HF, 401162TM, 401852SK, 401275SJ, 401487FW, 400294HD, 401117NA, 400852WJ, 400453LN, 401860TJ, 400338SR, 401994BD, 401393JW, 400060MC, 401386WA, 400825TW, 401084TD, 401589HP, 401432SB, 400375KA, 400524NJ, 401369GR, 400712GC, 401844ZD, 400677HD, 401413RG, 400586RD, 401543DC, 400173KP, 401458RT, 400091BS, 401490TL, 401482CB
Known GenesHTR2C
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)esv3574321
Frequency
Sample Size873
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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