A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717987



Internal ID9952278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4036125..4036535hg38UCSC Ensembl
Outerchr19:4036123..4036533hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv495e201
Supporting Variantsessv6839615, essv6788780, essv6946079, essv6788781, essv6666366, essv6874400
SamplesSSM083, SSM023, SSM069, SSM029, SSM091
Known GenesPIAS4
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2717987
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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