A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12437n54



Internal ID22780332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144345873..144448001hg38UCSC Ensembl
chr8:145569535..145673384hg19UCSC Ensembl
chr8:145540343..145644192hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38102129
hg19103850
hg18103850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612930, nsv612933, nsv612932
Samples
Known GenesADCK5, CPSF1, FBXL6, LOC100287098, MIR1234, MIR6849, MIR6893, MIR939, 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)dgv12437n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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