A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6730761



Internal ID9794481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177467839..177468219hg38UCSC Ensembl
Outerchr5:176894840..176895220hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731194
Supporting Variants
SamplesSSM047
Known GenesDBN1
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)essv6730761
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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