A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722695



Internal ID10133908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1566624..1566777hg38UCSC Ensembl
Outerchr4:1568351..1568504hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726820, esv2726821
Supporting Variants
SamplesSSM045
Known Genes
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)essv6722695
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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