A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732098



Internal ID9966416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:53665946..53666094hg38UCSC Ensembl
Outerchr6:53530744..53530892hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855256, essv6963764
SamplesSSM027, SSM087
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)esv2732098
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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