A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747830



Internal ID18722076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39613104..39613385hg38UCSC Ensembl
Outerchr12:39613057..39613441hg38UCSC Ensembl
Innerchr12:40006906..40007187hg19UCSC Ensembl
Outerchr12:40006859..40007243hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549083
Supporting Variants
Samples
Known GenesABCD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747830
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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