A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958105



Internal ID9719980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30063917..30065971hg38UCSC Ensembl
Outerchr8:29921433..29923487hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736824
Supporting Variants
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)essv6958105
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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