A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6878048



Internal ID9927039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38561661..38562090hg38UCSC Ensembl
Outerchr3:38603152..38603581hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725164
Supporting Variants
SamplesSSM093
Known GenesSCN5A
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)essv6878048
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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