A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730708



Internal ID9965025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:122887216..122894072hg38UCSC Ensembl
Outerchr5:122222911..122229767hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386857
hg196857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758832
SamplesSSM008
Known GenesSNX24
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)esv2730708
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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