A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748293



Internal ID18722539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:87746775..87750044hg38UCSC Ensembl
Outerchr12:87746566..87750243hg38UCSC Ensembl
Innerchr12:88140552..88143821hg19UCSC Ensembl
Outerchr12:88140343..88144020hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg383678
hg193678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549546
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748293
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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