A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv141n54



Internal ID20133565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13287032..13348434hg38UCSC Ensembl
chr1:13607252..13674919hg19UCSC Ensembl
chr1:13479839..13547506hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3861403
hg1967668
hg1867668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545561, nsv545562, nsv545563
Samples
Known GenesPRAMEF13, PRAMEF15, PRAMEF7, PRAMEF8, PRAMEF9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv141n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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