A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731167



Internal ID10314803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176371373..176371848hg38UCSC Ensembl
Outerchr5:175798376..175798851hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739863, essv6670942, essv6974565, essv6798709, essv6680276, essv6922933, essv6869587, essv6730757
SamplesSSM090, SSM047, SSM018, SSM029, SSM031, SSM033, SSM072, SSM052
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)esv2731167
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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