A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767144



Internal ID10175406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59519302..59519458hg38UCSC Ensembl
Outerchr4:60385020..60385176hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727666, esv2727667, esv2727674, esv2727671
Supporting Variants
SamplesSSM064
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)essv6767144
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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