A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747950



Internal ID18722196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51044307..51044743hg38UCSC Ensembl
Outerchr12:51044293..51044755hg38UCSC Ensembl
Innerchr12:51438090..51438526hg19UCSC Ensembl
Outerchr12:51438076..51438538hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549203
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747950
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