A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748245



Internal ID18722491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83565461..83565729hg38UCSC Ensembl
Outerchr12:83565408..83565779hg38UCSC Ensembl
Innerchr12:83959240..83959508hg19UCSC Ensembl
Outerchr12:83959187..83959558hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549498
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748245
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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