A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549130



Internal ID18750206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42627108..42632864hg38UCSC Ensembl
Outerchr12:42626199..42633806hg38UCSC Ensembl
Innerchr12:43020910..43026666hg19UCSC Ensembl
Outerchr12:43020001..43027608hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387608
hg197608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747877
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549130
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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