A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6825542



Internal ID9879784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10018550..10019032hg38UCSC Ensembl
Outerchr3:10060234..10060716hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724891, esv2724892
Supporting Variants
SamplesSSM080
Known GenesCIDECP
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)essv6825542
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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