A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549083



Internal ID18750159
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 StatusM
Merged Variants
Supporting Variantsessv9747830
Samples
Known GenesABCD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549083
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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