A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873577



Internal ID9923016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58886495..59088215hg38UCSC Ensembl
Outerchr11:58653968..58855688hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38201721
hg19201721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744557, esv2744559
Supporting Variants
SamplesSSM091
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)essv6873577
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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