A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890242



Internal ID10284700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54915541..54915817hg38UCSC Ensembl
Outerchr6:54780339..54780615hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732104
Supporting Variants
SamplesSSM097
Known GenesFAM83B
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)essv6890242
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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