A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv253e212



Internal ID20148709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:76493508..76502424hg38UCSC Ensembl
chr10:78253266..78262182hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg388917
hg198917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577405, esv3577438, esv3577416
Samples402067KS, 401595BL, 400105BB, 400683EC, 400929MM, 401673DM, 400534ME, 400478WE, 401155ML, 401253MC, 401892MJ, 402009WP, 400043HC, 401785MJ, 400387HE, 401359HF, 400778SR, 401543DC, 401230NL, 400622SJ, 400677HD, 400240HJ, 401361GG, 401661HD, 400072GR, 400937OR, 401318AV, 401489CB, 401735LE, 400629BM, 401769CR, 402065BG, 401434VN, 400879DS, 401414CR, 401801LA, 402061PI, 401587RC, 400277LM, 401033DJ, 400291VJ, 400759FV, 401869BG, 400653GP, 400203NA, 401184MM, 400319HT, 401307VR, 401057SS, 401326LI, 401401BA, 401809FU, 402056KD, 400911GA, 401005BL, 401552BK, 401091HS, 401977ES, 400547BS, 400999HR, 401594MP, 401952UH, 401726LW, 400515ZG, 40031BA, 400069CN, 401499JR, 402016HZ, 400802DP, 401021SC, 400007RG, 401376RD, 400378HL, 400661AD, 401068SD, 401468RL, 401930GD, 400352CA, 400995MS, 400249BC, 401330RR, 402012RR, 401734PG, 401477ST, 402028BD, 400422PN, 400347VJ, 401423BA, 401348RB, 401874DJ, 400829MR, 400063BR, 401038LN, 400506GN, 400732MA, 401766MR, 400686BM, 401249TP, 401315HK, 400429YF, 400270BD, 400103BN, 401550SP, 401825TH, 400337HG, 401646MC, 401786WD, 400230TB, 400385LJ, 401764JJ, 400728PB, 401347DH, 401458RT, 401918CA, 400051MR, 401265CB, 401829FJ, 400704LC, 400729HC, 400091BS, 401357MH, 401695BT, 401385BB, 400496BL, 400586RD, 401252AE, 400148MS, 401410BJ, 401940SJ, 400066MA, 400721DJ, 400135DR, 401465TB, 401847RK, 400571WV, 401919MD, 400838AM, 401899MB, 401969DR, 401623SN, 401677MM, 401736BF, 401956DQ, 401102RD, 400013TA, 401135CS, 400285FA, 401855RE, 400413FJ, 400206SC, 400769SL, 400012CJ, 401860TJ, 400645KM, 400483DP, 401576WC, 401190WC, 400675HC, 401151RJ, 400624RJ, 400817MB, 401932GN, 401185LE, 401195PN, 401234MB, 400041LJ, 401012TP, 401591BE, 401889FR, 400338SR, 400668TD, 400486LS, 400138LA, 400333CC, 401791FG, 401926MR, 40050SB, 400701MM, 400889CM, 401914PR, 400258BC, 401019MP, 401302LJ, 401413RG, 400801HS, 400955BE, 401274PA, 400201PK, 401084TD
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)dgv253e212
Frequency
Sample Size873
Observed Gain189
Observed Loss0
Observed Complex0
Frequencyn/a


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