A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6730694



Internal ID10141107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:99009333..99011762hg38UCSC Ensembl
Outerchr5:98345037..98347466hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg382430
hg192430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730504
Supporting Variants
SamplesSSM047
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)essv6730694
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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