A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6922397



Internal ID9987223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179900983..179901484hg38UCSC Ensembl
Outerchr3:179618771..179619272hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726258
Supporting Variants
SamplesSSM003
Known GenesPEX5L
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)essv6922397
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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