A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730021



Internal ID10313657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:31570147..31570623hg38UCSC Ensembl
Outerchr5:31570254..31570730hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711622, essv6903510, essv6758242
SamplesSSM008, SSM013, SSM042
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)esv2730021
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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