A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12407n54



Internal ID22780302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143211426..143213441hg38UCSC Ensembl
chr8:144292938..144295316hg19UCSC Ensembl
chr8:144364313..144366691hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382016
hg192379
hg182379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612755, nsv612758, nsv612761, nsv612760
Samples
Known GenesGPIHBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12407n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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