A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2229e212



Internal ID20150685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15801580..15813860hg38UCSC Ensembl
chrX:15819703..15831983hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3812281
hg1912281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576781, esv3576785, esv3576782, esv3576784, esv3576786
Samples400474GF, 400782IE, 401258PC, 400942HR, 400107MJ, 401504RJ, 401149VA, 401742KB, 401489CB, 400738WM, 401640WJ, 401478RD, 401434VN, 401514BA, 401721CP, 4000046CJ, 401074CM, 401262RR, 401517PR, 401285HN, 401391PJ, 401354KM, 401943KA, 401075MN, 401308LD, 401184MM, 401401BA, 400927BD, 400572PJ, 401453OL, 401281BP, 400199SA, 401196CR, 400451kh, 400482MD, 401526WB, 401311GL, 401612HB, 401630MK, 401792KR, 401297KC, 401180GR, 400136DM, 401975VD, 401292ER, 401480PG, 401182OC, 401930GD, 400523GB, 400266BA, 401295HB, 401419SW, 400422PN, 400811SK, 402064DC, 401874DJ, 400829MR, 401732HW, 401766MR, 400337HG, 400385LJ, 400247CL, 400134WK, 401432SB, 401458RT, 400439IM, 400051MR, 400984LD, 401265CB, 401385BB, 400320RN, 401496SL, 401444LD, 401465TB, 401215MJ, 401919MD, 400650RM, 401372RR, 400880TM, 400512LR, 400073HT, 400503HD, 401235IA, 401437MJ, 400206SC, 400836LK, 401493HC, 400483DP, 401706BJ, 400123WN, 401591BE, 401119DK, 401535RJ, 401857VG, 401862AN, 401460LW, 401838EN, 400701MM, 400156WT, 401413RG, 400509CJ
Known GenesZRSR2
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)dgv2229e212
Frequency
Sample Size873
Observed Gain101
Observed Loss0
Observed Complex0
Frequencyn/a


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