A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6930275



Internal ID10040070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115842099..115870017hg38UCSC Ensembl
Outerchr5:115177796..115205714hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3827919
hg1927919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730625
Supporting Variants
SamplesSSM020
Known GenesAP3S1
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)essv6930275
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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