A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549637



Internal ID18750713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96978493..96978743hg38UCSC Ensembl
Outerchr12:96978428..96978809hg38UCSC Ensembl
Innerchr12:97372271..97372521hg19UCSC Ensembl
Outerchr12:97372206..97372587hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748384
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549637
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