A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727719



Internal ID10138428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:29604863..29605027hg38UCSC Ensembl
Outerchr8:29462379..29462543hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736821, esv2736822
Supporting Variants
SamplesSSM046
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)essv6727719
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