A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7109247



Internal ID10387529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201281929..201284721hg38UCSC Ensembl
Outerchr2:202146652..202149444hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382793
hg192793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2839680
Supporting Variants
SamplesHuRef
Known GenesCASP8
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7109247
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