A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865398



Internal ID10262340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143555795..143556101hg38UCSC Ensembl
Outerchr5:142935360..142935666hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730859
Supporting Variants
SamplesSSM089
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)essv6865398
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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