A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731142



Internal ID10314778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174521640..174522404hg38UCSC Ensembl
Outerchr5:173948643..173949407hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38765
hg19765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974560, essv6926669, essv6727010, essv6770666
SamplesSSM046, SSM065, SSM029, SSM019
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)esv2731142
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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