A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797588



Internal ID9857859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184845602..184851644hg38UCSC Ensembl
Outerchr1:184814736..184820778hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386043
hg196043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720206
Supporting Variants
SamplesSSM072
Known GenesFAM129A
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)essv6797588
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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