A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731457



Internal ID10315093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2467955..2468670hg38UCSC Ensembl
Outerchr6:2468189..2468904hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918642, essv6878530
SamplesSSM093, SSM017
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)esv2731457
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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