A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866985



Internal ID9917082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58862960..59075920hg38UCSC Ensembl
Outerchr11:58630433..58843393hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38212961
hg19212961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744557
Supporting Variants
SamplesSSM089
Known GenesGLYATL1, LOC283194
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)essv6866985
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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