A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2172e212



Internal ID22785099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100981386..101006563hg38UCSC Ensembl
chr9:103743668..103768845hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3825178
hg1925178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573312, esv3573311, esv3573317, esv3573313
Samples401191MI, 400424LN, 400132HN, 400737GC, 401911FL, 401036WS, 400083TG, 400866RR, 400949AM, 401427CB, 401384BP, 400325BE, 400897MD, 401355CD, 401030GI, 401551MB, 400893ZE, 400669LD, 400743LS, 402065BG, 401184MM, 400307HW, 400564SN, 400729HC, 401347DH, 400383HL, 401726LW, 401397WN, 400236DB, 402063WM, 401084TD, 402033WD, 400783MJ, 401853WR, 401357MH, 401594MP, 401694SG, 401804FG, 400093BL, 401348RB, 400758KP, 401318AV, 401586RS, 400994HJ, 401630MK, 401943KA, 401478RD, 400681MC, 400547BS, 401262RR, 401075MN, 400006DK, 402054BD, 402001SR, 401812HG, 401087SF, 401086MD, 400869BK, 400278PD, 400571WV, 401874DJ, 401914PR, 400454RE, 400728PB, 400158FB, 402009WP, 401881TJ, 401847RK, 401693RC, 401010HT, 401287CF, 400759FV, 400267GD, 401240ML, 400719TM, 401763SG, 401912HD, 401354KM, 400108BJ, 402023EC, 400833BB, 400261RN, 402042BJ, 401153HS, 400178RH, 400661AD, 400150SS, 400255CD, 400923OA, 400668TD, 400645KM, 401362ME
Known Genes
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)dgv2172e212
Frequency
Sample Size873
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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