A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6840579



Internal ID10240004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:145428683..145429239hg38UCSC Ensembl
Outerchr3:145146470..145147026hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726018
Supporting Variants
SamplesSSM084
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)essv6840579
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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