A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6892947



Internal ID10287134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1278712..1279417hg38UCSC Ensembl
Outerchr4:1272500..1273205hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726772, esv2726771
Supporting Variants
SamplesSSM098
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)essv6892947
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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