A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv328e212



Internal ID22783255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18919475..18940851hg38UCSC Ensembl
chr11:18941022..18962398hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3821377
hg1921377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578405, esv3578427, esv3578449, esv3578338, esv3578416, esv3578305, esv3578316, esv3578383, esv3578438, esv3578327, esv3578472, esv3578372, esv3578283, esv3578394, esv3578460
Samples400911GA, 400075MR, 400599CP, 400701MM, 400908PJ, 400424LN, 400880TM, 400619MP, 400789KV, 401400NP, 401385BB, 400626FC, 401962BK, 400574MA, 400995MS, 401845MJ, 400629BM, 401093VL, 401355CD, 400453LN, 400225CJ, 400620MT, 400347VJ, 400486LS, 401308LD, 400523GB, 400131CM, 401258PC, 401173AI, 401695BT, 401687LR, 401780BB, 402065BG, 401184MM, 400292LP, 401965TG, 400836LK, 400729HC, 401406KF, 401377MA, 400282RA, 401386WA, 400416KA, 400738WM, 400768MN, 401717LP, 401864CV, 401326LI, 400361HC, 400681MC, 401892MJ, 400047DS, 401493HC, 401875FG, 400362TV, 401587RC, 401795SP, 401940SJ, 401176BD, 400695PH, 400518MS, 401595BL, 401496SL, 400845ML, 400246MG, 401847RK, 401277RA, 401693RC, 401287CF, 400863SS, 401413RG, 400410CD, 400859SC, 400586RD, 400811SK, 401135CS, 401797LS, 401728WK, 400108BJ, 400261RN, 400266BA, 400213DB, 401453OL, 401576WC, 401480PG, 400942HR, 400091BS, 400668TD, 400982BS, 401180GR, 401482CB, 401362ME
Known GenesMRGPRX1
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)dgv328e212
Frequency
Sample Size873
Observed Gain92
Observed Loss0
Observed Complex0
Frequencyn/a


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