A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6790331



Internal ID10193647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:116558408..116558750hg38UCSC Ensembl
Outerchr5:115894104..115894446hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730635
Supporting Variants
SamplesSSM070
Known GenesSEMA6A
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)essv6790331
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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