A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725021



Internal ID10308657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:20970068..21191868hg38UCSC Ensembl
Outerchr3:21011560..21233360hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38221801
hg19221801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914424, essv6854038
SamplesSSM087, SSM016
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)esv2725021
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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