A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724971



Internal ID9959273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:16318453..16323220hg38UCSC Ensembl
Outerchr3:16359960..16364727hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg384768
hg194768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742537
SamplesSSM053
Known GenesRFTN1
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)esv2724971
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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