A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2361e212



Internal ID22785288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:108273741..108282518hg38UCSC Ensembl
chrX:107516971..107525748hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg388778
hg198778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577040, esv3577038
Samples400701MM, 401366WD, 400618GC, 401196CR, 400987FB, 401640WJ, 400336BG, 400594VJ, 400889CM, 400876OG, 401592NR, 401742KB, 401498HH, 400866RR, 401195PN, 401698SB, 400834SS, 400553PP, 401949MN, 401936BA, 401390DG, 401860TJ, 401239PR, 400337HG, 400773GS, 402038MR, 400061DE, 400073HT, 400526DR, 400583HS, 400460DM, 401184MM, 400307HW, 400817MB, 400836LK, 401994BD, 400733SW, 401013GJ, 400041LJ, 401977ES, 401376RD, 400411TG, 400577MK, 400515ZG, 401691HA, 401870FB, 401499JR, 401274PA, 400791GC, 401589HP, 400660GK, 401210PB, 401526WB, 400967PK, 401423BA, 401348RB, 401519SA, 401618HR, 401475MK, 401771OS, 401084BD, 401444LD, 400854SG, 400211BJ, 401067BD, 401580CA, 401778CB, 401176BD, 401914PR, 400654YW, 401057SS, 401203MP, 400483DP, 401295HB, 400295PS, 401025SM, 400677HD, 401012TP, 401287CF, 400863SS, 401413RG, 400128MJ, 401056TJ, 401135CS, 400879DS, 401681MS, 401554VN, 400266BA, 401932GN, 401453OL, 400540BM, 401480PG, 400923OA, 400668TD, 401362ME
Known GenesCOL4A6
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)dgv2361e212
Frequency
Sample Size873
Observed Gain95
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer