A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947619



Internal ID10056450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:99009324..99011792hg38UCSC Ensembl
Outerchr5:98345028..98347496hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg382469
hg192469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730504
Supporting Variants
SamplesSSM024
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)essv6947619
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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