A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12434n54



Internal ID20145858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144270080..144516801hg38UCSC Ensembl
chr8:145494068..145742185hg19UCSC Ensembl
chr8:145464876..145712993hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38246722
hg19248118
hg18248118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612918, nsv612926
Samples
Known GenesADCK5, BOP1, CPSF1, CYHR1, DGAT1, FBXL6, FOXH1, GPT, HSF1, KIFC2, LOC100287098, MFSD3, MIR1234, MIR6848, MIR6849, MIR6893, MIR939, PPP1R16A, RECQL4, SCRT1, SLC39A4, SLC52A2, TMEM249, TONSL, VPS28
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12434n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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