A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730352



Internal ID10313988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:79427449..79427886hg38UCSC Ensembl
Outerchr5:78723272..78723709hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922855, essv6670797
SamplesSSM018, SSM031
Known GenesHOMER1
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)esv2730352
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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