A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574719



Internal ID18356231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:136350778..136358090hg38UCSC Ensembl
InnerchrX:135432937..135440249hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg387313
hg197313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2476e212
Supporting Variantsessv9832122, essv9832113, essv9832100, essv9832144, essv9832125, essv9832097, essv9832117, essv9832108, essv9832102, essv9832095, essv9832111, essv9832101, essv9832124, essv9832120, essv9832139, essv9832106, essv9832140, essv9832093, essv9832138, essv9832133, essv9832155, essv9832105, essv9832118, essv9832141, essv9832098, essv9832137, essv9832136, essv9832150, essv9832109, essv9832129, essv9832119, essv9832152, essv9832104, essv9832112, essv9832142, essv9832094, essv9832153, essv9832149, essv9832145, essv9832135, essv9832147, essv9832146, essv9832123, essv9832115, essv9832151, essv9832096, essv9832134, essv9832130, essv9832114, essv9832126, essv9832103
Samples400316SL, 401020DJ, 400984LD, 401852SK, 400268SY, 40031BA, 401117NA, 400141CC, 400506GN, 400595CP, 401899MB, 401434VN, 400855BD, 400191MP, 400493KH, 400937OR, 400131CM, 400066MA, 401165SB, 401831TW, 400344DR, 401746WW, 400579HJ, 400002HK, 400352CA, 400974PS, 400738WM, 401540NA, 401278DM, 400375KA, 401618HR, 401879HJ, 400724CD, 400888MS, 400387HE, 400639RP, 401587RC, 400520FM, 400695PH, 401182OC, 400518MS, 401391PJ, 401595BL, 400376SJ, 401552BK, 400044HS, 400811SK, 400719TM, 400778SR, 400173KP, 400234CA
Known GenesGPR112
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)esv3574719
Frequency
Sample Size873
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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