A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12368n54



Internal ID20145792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141423157..141457475hg38UCSC Ensembl
chr8:142433257..142467575hg19UCSC Ensembl
chr8:142502439..142536757hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3834319
hg1934319
hg1834319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612579, nsv612580, nsv612581
Samples1782681313_A, HGDP00784, NINDS_111
Known GenesMROH5, PTP4A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12368n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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