A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726427



Internal ID10310063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194083477..194083794hg38UCSC Ensembl
Outerchr3:193801266..193801583hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670070
SamplesSSM031
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)esv2726427
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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