A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724932



Internal ID9959234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:12155010..12155129hg38UCSC Ensembl
Outerchr3:12196510..12196629hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864612, essv6955645, essv6962399
SamplesSSM027, SSM026, SSM089
Known GenesSYN2, TIMP4
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)esv2724932
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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