A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748344



Internal ID18375904
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 StatusS
Merged Variantsesv3549597
Supporting Variants
Samples
Known GenesPLXNC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748344
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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