A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743968



Internal ID9978252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1871933..1872490hg38UCSC Ensembl
Outerchr11:1893163..1893720hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695353, essv6728152, essv6795846, essv6823440
SamplesSSM071, SSM046, SSM079, SSM037
Known GenesLSP1
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)esv2743968
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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