A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548615



Internal ID18403005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1328829..1329332hg38UCSC Ensembl
Outerchr12:1328782..1329457hg38UCSC Ensembl
Innerchr12:1437995..1438498hg19UCSC Ensembl
Outerchr12:1437948..1438623hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38676
hg19676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747362
Samples
Known GenesERC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548615
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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