A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714442



Internal ID9779793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243619521..243620423hg38UCSC Ensembl
Outerchr1:243782823..243783725hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38903
hg19903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726518
Supporting Variants
SamplesSSM043
Known GenesAKT3
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)essv6714442
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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