A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548964



Internal ID18403354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29420492..29420812hg38UCSC Ensembl
Outerchr12:29420419..29420862hg38UCSC Ensembl
Innerchr12:29573425..29573745hg19UCSC Ensembl
Outerchr12:29573352..29573795hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747711
Samples
Known GenesOVCH1-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548964
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