A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6693560



Internal ID10109291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1278685..1279406hg38UCSC Ensembl
Outerchr4:1272473..1273194hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726772, esv2726771
Supporting Variants
SamplesSSM037
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)essv6693560
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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