A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6719283



Internal ID9785486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168665534..168665903hg38UCSC Ensembl
Outerchr5:168092539..168092908hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731044
Supporting Variants
SamplesSSM044
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)essv6719283
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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