A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869574



Internal ID10266101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148910357..148911482hg38UCSC Ensembl
Outerchr5:148289920..148291045hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730899
Supporting Variants
SamplesSSM090
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)essv6869574
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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