A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725234



Internal ID9959538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46441773..46442226hg38UCSC Ensembl
Outerchr3:46483264..46483717hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973403
SamplesSSM029
Known GenesLTF
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)esv2725234
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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