A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872447



Internal ID10268685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:169821414..169821802hg38UCSC Ensembl
Outerchr4:170742565..170742953hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728728
Supporting Variants
SamplesSSM091
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)essv6872447
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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