A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9275n54



Internal ID20142699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:133985106..134274527hg38UCSC Ensembl
chr4:134906261..135195682hg19UCSC Ensembl
chr4:135125711..135415132hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38289422
hg19289422
hg18289422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv595473, nsv595481, nsv595478, nsv595480, nsv595476, nsv595477, nsv595486, nsv595475, nsv595487, nsv595482, nsv595484, nsv595485, nsv595474, nsv595479
Samples
Known GenesPABPC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9275n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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