A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6693436



Internal ID9760920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:100365618..100366015hg38UCSC Ensembl
Outerchr3:100084462..100084859hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725694
Supporting Variants
SamplesSSM037
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)essv6693436
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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