A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv42n73



Internal ID19006929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864105..8865304hg38UCSC Ensembl
chr12:9016701..9017900hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv952798, nsv957391
SamplesBILGI_BIOE
Known GenesA2ML1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)dgv42n73
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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