A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929847



Internal ID9692242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2558069..2561324hg38UCSC Ensembl
Outerchr4:2559796..2563051hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383256
hg193256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726835, esv2726854
Supporting Variants
SamplesSSM020
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)essv6929847
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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