A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6176n54



Internal ID18998352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:811320..812545hg38UCSC Ensembl
chr19:811320..812545hg19UCSC Ensembl
chr19:762320..763545hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381226
hg191226
hg181226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578171, nsv578170
Samples
Known GenesLPPR3, PTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6176n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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