A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744747



Internal ID10325717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71398122..71406968hg38UCSC Ensembl
Outerchr11:71109168..71118014hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg388847
hg198847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672983, essv6720588
SamplesSSM031, SSM044
Known GenesFLJ42102
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)esv2744747
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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