A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548721



Internal ID18403111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8864259..8865270hg38UCSC Ensembl
Outerchr12:8864122..8865423hg38UCSC Ensembl
Innerchr12:9016855..9017866hg19UCSC Ensembl
Outerchr12:9016718..9018019hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747468
Samples
Known GenesA2ML1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548721
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer