A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv120n54



Internal ID20133544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12792723..12862756hg38UCSC Ensembl
chr1:12852872..12922611hg19UCSC Ensembl
chr1:12775459..12845198hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3870034
hg1969740
hg1869740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545471, nsv545463, nsv545461, nsv545476, nsv545475
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv120n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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