A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963223



Internal ID9722300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1206165..1206632hg38UCSC Ensembl
Outerchr5:1206280..1206747hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729441
Supporting Variants
SamplesSSM027
Known GenesSLC6A19
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)essv6963223
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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