A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548668



Internal ID18749744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5549157..5551357hg38UCSC Ensembl
Outerchr12:5549147..5551649hg38UCSC Ensembl
Innerchr12:5658323..5660523hg19UCSC Ensembl
Outerchr12:5658313..5660815hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382503
hg192503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747415
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548668
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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