A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736825



Internal ID9971157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30066929..30069584hg38UCSC Ensembl
Outerchr8:29924445..29927100hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382656
hg192656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958104
SamplesSSM026
Known GenesMIR548O2, TMEM66
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)esv2736825
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