A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799012



Internal ID9857216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167204020..167318521hg38UCSC Ensembl
Outerchr6:167617508..167732009hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38114502
hg19114502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733224, esv2733226
Supporting Variants
SamplesSSM072
Known GenesUNC93A
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)essv6799012
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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