A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731994



Internal ID10315630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43294064..43294163hg38UCSC Ensembl
Outerchr6:43261802..43261901hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957019, essv6963745
SamplesSSM027, SSM026
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)esv2731994
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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