A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv87e215



Internal ID22785597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101708223..101713722hg38UCSC Ensembl
chr12:102102001..102107500hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3549691, esv3549692
Samples
Known GenesCHPT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv87e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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