A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2249e212



Internal ID20150705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31152889..31155583hg38UCSC Ensembl
chrX:31171006..31173700hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg382695
hg192695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576808, esv3576807
Samples400316SL, 400599CP, 400063BR, 400439IM, 400739SS, 401052BM, 401819BS, 400094RS, 400101EH, 401079HJ, 400995MS, 400141CC, 401841OB, 401733CG, 400059SV, 401368WR, 400948EV, 401030GI, 400558BL, 400245SJ, 401258PC, 401906DT, 400227MM, 400033KC, 400348DK, 400121PL, 400032RC, 401609MB, 400729HC, 400186WC, 401192MJ, 400218WK, 400383HL, 401785MJ, 400663MD, 401274PA, 400838AM, 401230NL, 400285FA, 400093BL, 400043HC, 401326LI, 401813DN, 401506LK, 401478RD, 400547BS, 400014SL, 400319HT, 401259LS, 40050SB, 401700BN, 400378HL, 400943DV, 400837HN, 400168HC, 400722OM, 400601WC, 400712GC, 400295PS, 402060PD, 400128MJ, 401240ML, 401100SJ, 400879DS, 401266HM, 400785AK, 401177SL, 400508RD, 400150SS, 401576WC, 401066MM
Known GenesDMD
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)dgv2249e212
Frequency
Sample Size873
Observed Gain71
Observed Loss0
Observed Complex0
Frequencyn/a


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