A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854130



Internal ID9661622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132275178..132275506hg38UCSC Ensembl
Outerchr5:131610871..131611199hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730785, esv2730787, esv2730786
Supporting Variants
SamplesSSM011
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)essv6854130
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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