A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577405



Internal ID18358917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:76493508..76500815hg38UCSC Ensembl
Innerchr10:78253266..78260573hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg387308
hg197308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv253e212
Supporting Variantsessv9794108, essv9794076, essv9794121, essv9794143, essv9794138, essv9794094, essv9794065, essv9794087, essv9794112, essv9794114, essv9794124, essv9794061, essv9794115, essv9794119, essv9794145, essv9794103, essv9794128, essv9794091, essv9794082, essv9794106, essv9794146, essv9794139, essv9794116, essv9794102, essv9794095, essv9794078, essv9794134, essv9794132, essv9794090, essv9794127, essv9794084, essv9794147, essv9794071, essv9794109, essv9794136, essv9794060, essv9794058, essv9794097, essv9794126, essv9794123, essv9794093, essv9794140, essv9794117, essv9794107, essv9794142, essv9794072, essv9794110, essv9794141, essv9794105, essv9794054, essv9794079, essv9794085, essv9794099, essv9794057, essv9794068, essv9794135, essv9794080, essv9794113, essv9794070, essv9794120, essv9794118, essv9794149, essv9794083, essv9794063, essv9794130, essv9794074, essv9794081, essv9794129, essv9794086, essv9794137, essv9794092, essv9794151, essv9794150, essv9794096, essv9794056, essv9794131, essv9794067, essv9794062, essv9794059, essv9794069, essv9794125, essv9794064, essv9794075, essv9794104, essv9794098, essv9794148, essv9794101, essv9794073
Samples400801HS, 401021SC, 400063BR, 401489CB, 400105BB, 401956DQ, 400889CM, 401673DM, 400622SJ, 400683EC, 400230TB, 401302LJ, 401195PN, 401468RL, 401434VN, 400277LM, 400347VJ, 401190WC, 402016HZ, 401926MR, 401860TJ, 400675HC, 401695BT, 401869BG, 402065BG, 401401BA, 401252AE, 401766MR, 401155ML, 400817MB, 401550SP, 400385LJ, 400338SR, 401855RE, 400333CC, 402056KD, 401801LA, 400729HC, 401791FG, 401646MC, 401764JJ, 400041LJ, 401347DH, 400007RG, 400515ZG, 401591BE, 401499JR, 401477ST, 401091HS, 401736BF, 401230NL, 400240HJ, 401594MP, 400496BL, 401185LE, 401423BA, 401348RB, 401318AV, 400829MR, 400043HC, 401825TH, 401952UH, 401892MJ, 401414CR, 400249BC, 401919MD, 401940SJ, 401307VR, 400999HR, 400135DR, 401677MM, 400201PK, 401361GG, 400483DP, 400103BN, 402009WP, 401315HK, 401552BK, 401012TP, 401135CS, 400879DS, 401543DC, 401829FJ, 400013TA, 400661AD, 400291VJ, 400138LA, 400091BS
Known GenesC10orf11
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)esv3577405
Frequency
Sample Size873
Observed Gain88
Observed Loss0
Observed Complex0
Frequencyn/a


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