A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2373n54



Internal ID22770268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11328123..11422636hg38UCSC Ensembl
chr12:11481057..11575570hg19UCSC Ensembl
chr12:11372324..11466837hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3894514
hg1994514
hg1894514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557534, nsv557532, nsv557531, nsv557527, nsv557535, nsv557533
Samples1780862224_A, NINDS_69
Known GenesPRB1, PRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2373n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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