A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742645



Internal ID9976929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149197954..149198369hg38UCSC Ensembl
Outerchr5:148577517..148577932hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899570
SamplesSSM100
Known GenesABLIM3
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)esv2742645
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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