A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722180



Internal ID10133443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230335182..230335639hg38UCSC Ensembl
Outerchr1:230470928..230471385hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724683
Supporting Variants
SamplesSSM045
Known GenesPGBD5
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)essv6722180
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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