A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976971



Internal ID10081196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73709113..73715692hg38UCSC Ensembl
Outerchr11:73420158..73426737hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386580
hg196580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744772
Supporting Variants
SamplesSSM029
Known GenesRAB6A
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)essv6976971
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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