A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744137



Internal ID9978421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:16390038..16390629hg38UCSC Ensembl
Outerchr11:16411584..16412175hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668114, essv6672878, essv6944722, essv6809229, essv6866918
SamplesSSM089, SSM031, SSM030, SSM023, SSM075
Known GenesSOX6
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)esv2744137
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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