A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744754



Internal ID10325724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71584246..71585009hg38UCSC Ensembl
Outerchr11:71295292..71296055hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857040, essv6765708
SamplesSSM087, SSM063
Known Genes
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)esv2744754
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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