A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2807n54



Internal ID20136231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96194215..96195012hg38UCSC Ensembl
chr12:96587993..96588790hg19UCSC Ensembl
chr12:95112124..95112921hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38798
hg19798
hg18798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559847, nsv559844
Samples
Known GenesELK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2807n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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