A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847851



Internal ID10246547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:15272557..15272670hg38UCSC Ensembl
Outerchr3:15314064..15314177hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724963, esv2724962
Supporting Variants
SamplesSSM086
Known GenesSH3BP5
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)essv6847851
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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