A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747395



Internal ID18721641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3197744..3198829hg38UCSC Ensembl
Outerchr12:3197603..3198965hg38UCSC Ensembl
Innerchr12:3306910..3307995hg19UCSC Ensembl
Outerchr12:3306769..3308131hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381363
hg191363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548648
Supporting Variants
Samples
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747395
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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