A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6968664



Internal ID9729683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189966053..189966299hg38UCSC Ensembl
Outerchr3:189683842..189684088hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726372
Supporting Variants
SamplesSSM028
Known GenesLEPREL1
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)essv6968664
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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