A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970175



Internal ID10075011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142203117..142203775hg38UCSC Ensembl
Outerchr8:143284478..143285136hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737844
Supporting Variants
SamplesSSM028
Known GenesLINC00051
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)essv6970175
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