A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6708291



Internal ID10122587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:159165409..159165727hg38UCSC Ensembl
Outerchr5:158592417..158592735hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730969
Supporting Variants
SamplesSSM041
Known GenesRNF145
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)essv6708291
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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