A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549602



Internal ID18403992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94275576..94275841hg38UCSC Ensembl
Outerchr12:94275513..94275908hg38UCSC Ensembl
Innerchr12:94669352..94669617hg19UCSC Ensembl
Outerchr12:94669289..94669684hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748349
Samples
Known GenesPLXNC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549602
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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