A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969517



Internal ID9728915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167318283..167318730hg38UCSC Ensembl
Outerchr6:167731771..167732218hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733230, esv2733232
Supporting Variants
SamplesSSM028
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)essv6969517
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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