A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568969



Internal ID18697167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:118239939..118253222hg38UCSC Ensembl
Innerchr3:117958786..117972069hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3813284
hg1913284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1402e212
Supporting Variantsessv9767987, essv9767961, essv9768002, essv9767977, essv9767988, essv9767992, essv9767991, essv9767999, essv9767993, essv9768006, essv9767959, essv9767972, essv9768009, essv9767985, essv9767960, essv9768003, essv9768016, essv9768005, essv9768010, essv9767995, essv9768007, essv9767989, essv9768021, essv9768015, essv9767962, essv9767971, essv9767975, essv9767997, essv9768018, essv9767994, essv9767986, essv9767976, essv9767968, essv9767984, essv9767998, essv9768011, essv9768019, essv9767974, essv9768013, essv9767983, essv9767969, essv9767996, essv9768014, essv9768017, essv9767981, essv9768008, essv9767963, essv9767965, essv9767982, essv9767964, essv9767980, essv9767970, essv9768000, essv9767973, essv9768020, essv9767966, essv9767958, essv9768004
Samples401362ME, 401474CE, 400570RW, 401162TM, 400789KV, 400572PJ, 401261HD, 400230TB, 401498HH, 400141CC, 400949AM, 400449PK, 400625FT, 401096SL, 400948EV, 400528LR, 400298ME, 400438DB, 400066MA, 401935TM, 400203NA, 400320RN, 401252AE, 401838EN, 400206SC, 401198TI, 401406KF, 401353BC, 400198MD, 400282RA, 400577MK, 401397WN, 401084TD, 401499JR, 401091HS, 400240HJ, 401278DM, 400967PK, 401586RS, 401084BD, 400844GP, 400547BS, 401812HG, 400999HR, 400721DJ, 400474GF, 400451kh, 400168HC, 401428LD, 401025SM, 401012TP, 401858TP, 400072GR, 400177SJ, 401836SI, 400152MR, 401395OP, 400704LC
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)esv3568969
Frequency
Sample Size873
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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