A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549597



Internal ID18403987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94165690..94166309hg38UCSC Ensembl
Outerchr12:94165545..94166373hg38UCSC Ensembl
Innerchr12:94559466..94560085hg19UCSC Ensembl
Outerchr12:94559321..94560149hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748344
Samples
Known GenesPLXNC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549597
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer