A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv116n54



Internal ID20133540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12774110..12858819hg38UCSC Ensembl
chr1:12834253..12918674hg19UCSC Ensembl
chr1:12756840..12841261hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3884710
hg1984422
hg1884422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545449, nsv545454, nsv545451, nsv545450
SamplesHGDP00988, HGDP00952
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv116n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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