A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv107n54



Internal ID18992283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11502433..11566801hg38UCSC Ensembl
chr1:11562490..11626858hg19UCSC Ensembl
chr1:11485077..11549445hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3864369
hg1964369
hg1864369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545414, nsv545415
SamplesHGDP00787
Known GenesPTCHD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv107n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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