A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748417



Internal ID18375977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99895042..99897693hg38UCSC Ensembl
Outerchr12:99894471..99898038hg38UCSC Ensembl
Innerchr12:100288820..100291471hg19UCSC Ensembl
Outerchr12:100288249..100291816hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383568
hg193568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549670
Supporting Variants
Samples
Known GenesANKS1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748417
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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