A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6809329



Internal ID9864116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134281586..134344391hg38UCSC Ensembl
Outerchr11:134151480..134214285hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3862806
hg1962806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745325
Supporting Variants
SamplesSSM075
Known GenesGLB1L2, GLB1L3
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)essv6809329
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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