A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548892



Internal ID18403282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24289458..24289704hg38UCSC Ensembl
Outerchr12:24289435..24289765hg38UCSC Ensembl
Innerchr12:24442392..24442638hg19UCSC Ensembl
Outerchr12:24442369..24442699hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747639
Samples
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548892
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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