A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549669



Internal ID18404059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99600075..99614776hg38UCSC Ensembl
Outerchr12:99598397..99615222hg38UCSC Ensembl
Innerchr12:99993853..100008554hg19UCSC Ensembl
Outerchr12:99992175..100009000hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3816826
hg1916826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748416
Samples
Known GenesANKS1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549669
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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