A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6730757



Internal ID10141163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176371376..176371803hg38UCSC Ensembl
Outerchr5:175798379..175798806hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731167
Supporting Variants
SamplesSSM047
Known GenesARL10
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)essv6730757
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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