A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731066



Internal ID10314702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:170375545..170375709hg38UCSC Ensembl
Outerchr5:169802549..169802713hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837296, essv6956771
SamplesSSM083, SSM026
Known GenesKCNIP1
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)esv2731066
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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