A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7521841



Internal ID10800123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:48331694..48334608hg38UCSC Ensembl
Outerchr12:48725477..48728391hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382915
hg192915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3252274
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7521841
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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