A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912421



Internal ID9675285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9623390..10133790hg38UCSC Ensembl
Outerchr11:9644937..10155337hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38510401
hg19510401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744095
Supporting Variants
SamplesSSM015
Known GenesLOC440028, SBF2, SBF2-AS1, SWAP70
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)essv6912421
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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