A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6934446



Internal ID10043334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:29642804..29644861hg38UCSC Ensembl
Outerchr5:29642911..29644968hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382058
hg192058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730005
Supporting Variants
SamplesSSM021
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)essv6934446
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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