A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724787



Internal ID9997578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59518819..59519029hg38UCSC Ensembl
Outerchr4:60384537..60384747hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727668, esv2727666, esv2727667
Supporting Variants
SamplesSSM007
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)essv6724787
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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