A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6705647



Internal ID9771877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:41683271..41684524hg38UCSC Ensembl
Outerchr8:41540789..41542042hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381254
hg191254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736933
Supporting Variants
SamplesSSM040
Known GenesANK1
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)essv6705647
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