A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668749



Internal ID10084027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49443820..49444522hg38UCSC Ensembl
Outerchr19:49947077..49947779hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718715
Supporting Variants
SamplesSSM030
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)essv6668749
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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