A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv50n54



Internal ID20133474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2401592..2518955hg38UCSC Ensembl
chr1:2333031..2450394hg19UCSC Ensembl
chr1:2322891..2440254hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38117364
hg19117364
hg18117364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545073, nsv545074
SamplesHGDP00614, HGDP00607
Known GenesPANK4, PEX10, PLCH2, RER1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv50n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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