A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847989



Internal ID9899985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:100365624..100366067hg38UCSC Ensembl
Outerchr3:100084468..100084911hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725694
Supporting Variants
SamplesSSM086
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)essv6847989
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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