A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736824



Internal ID9971156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30063917..30066745hg38UCSC Ensembl
Outerchr8:29921433..29924261hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382829
hg192829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958106, essv6958105
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)esv2736824
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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