A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728721



Internal ID9963036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:169178285..169178501hg38UCSC Ensembl
Outerchr4:170099436..170099652hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826008
SamplesSSM080
Known GenesSH3RF1
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)esv2728721
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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