A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702385



Internal ID10114094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120516948..120517645hg38UCSC Ensembl
Outerchr11:120387657..120388354hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745146
Supporting Variants
SamplesSSM039
Known GenesGRIK4
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)essv6702385
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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