A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6861574



Internal ID9912085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19479633..19480035hg38UCSC Ensembl
Outerchr8:19337144..19337546hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736725
Supporting Variants
SamplesSSM088
Known GenesCSGALNACT1
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)essv6861574
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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