A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787077



Internal ID10193610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30984398..30984576hg38UCSC Ensembl
Outerchr8:30841914..30842092hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736836, esv2736839
Supporting Variants
SamplesSSM069
Known Genes
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)essv6787077
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