A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731050



Internal ID9965367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:169047362..169047713hg38UCSC Ensembl
Outerchr5:168474367..168474718hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670928, essv6790366
SamplesSSM031, SSM070
Known GenesSLIT3
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)esv2731050
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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