A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6951717



Internal ID10059254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135744373..135744564hg38UCSC Ensembl
Outerchr5:135080062..135080253hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730808
Supporting Variants
SamplesSSM025
Known Genes
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)essv6951717
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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