A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969239



Internal ID10075851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178294054..178294688hg38UCSC Ensembl
Outerchr5:177721055..177721689hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731219
Supporting Variants
SamplesSSM028
Known GenesCOL23A1
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)essv6969239
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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