A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12439n54



Internal ID20145863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144438306..144525122hg38UCSC Ensembl
chr8:145663689..145750506hg19UCSC Ensembl
chr8:145634497..145721314hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3886817
hg1986818
hg1886818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612943, nsv612944, nsv612941
SamplesHGDP00433
Known GenesCYHR1, FOXH1, GPT, KIFC2, LOC100287098, LRRC14, LRRC24, MFSD3, PPP1R16A, RECQL4, TONSL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12439n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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