A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667439



Internal ID10084505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:107556946..107557935hg38UCSC Ensembl
Outerchr5:106892647..106893636hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38990
hg19990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730574
Supporting Variants
SamplesSSM030
Known GenesEFNA5
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)essv6667439
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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