A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988172



Internal ID6724146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161082128..161085718hg38UCSC Ensembl
Outerchr1:161051918..161055508hg19UCSC Ensembl
Outerchr1:159318542..159322132hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383591
hg193591
hg183591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565420
SamplesHuRef
Known GenesPVRL4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988172
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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