A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726435



Internal ID10310071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194491555..194491783hg38UCSC Ensembl
Outerchr3:194212284..194212512hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6774068, essv6679826, essv6942610
SamplesSSM023, SSM033, SSM066
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)esv2726435
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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