A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725694



Internal ID9960000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:100365585..100366067hg38UCSC Ensembl
Outerchr3:100084429..100084911hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847989, essv6872174, essv6693436, essv6892847, essv6962513
SamplesSSM027, SSM086, SSM037, SSM091, SSM098
Known GenesTOMM70A
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)esv2725694
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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