A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6789702



Internal ID10194584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17985755..17985852hg38UCSC Ensembl
Outerchr3:18027247..18027344hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724984, esv2724986
Supporting Variants
SamplesSSM070
Known GenesLOC339862
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)essv6789702
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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