A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2411n54



Internal ID20135835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23781464..23793212hg38UCSC Ensembl
chr12:23934398..23946146hg19UCSC Ensembl
chr12:23825665..23837413hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3811749
hg1911749
hg1811749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557765, nsv557766
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2411n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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