A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731519



Internal ID10315155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:5927454..5927649hg38UCSC Ensembl
Outerchr6:5927687..5927882hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767433, essv6802495
SamplesSSM064, SSM073
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)esv2731519
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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