A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753847



Internal ID10162489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190815853..190816719hg38UCSC Ensembl
Outerchr2:191680579..191681445hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38867
hg19867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721274
Supporting Variants
SamplesSSM058
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)essv6753847
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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