A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700450



Internal ID10115389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:28588539..28588866hg38UCSC Ensembl
Outerchr4:28590161..28590488hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727326
Supporting Variants
SamplesSSM039
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)essv6700450
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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