A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667359



Internal ID9737747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177541151..177541399hg38UCSC Ensembl
Outerchr4:178462305..178462553hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728772, esv2728789
Supporting Variants
SamplesSSM030
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)essv6667359
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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