A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv48n73



Internal ID22782654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114194216..114200595hg38UCSC Ensembl
chr12:114632021..114638400hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386380
hg196380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv957393, nsv952485
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)dgv48n73
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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