A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6711622



Internal ID10124233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:31570382..31570536hg38UCSC Ensembl
Outerchr5:31570489..31570643hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730022, esv2730021
Supporting Variants
SamplesSSM042
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)essv6711622
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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