A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548686



Internal ID18749762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6798235..6798451hg38UCSC Ensembl
Outerchr12:6798177..6798500hg38UCSC Ensembl
Innerchr12:6907401..6907617hg19UCSC Ensembl
Outerchr12:6907343..6907666hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747433
Samples
Known GenesCD4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548686
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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