A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6788393



Internal ID9845784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88823499..88823664hg38UCSC Ensembl
Outerchr16:88889907..88890072hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715047
Supporting Variants
SamplesSSM069
Known GenesGALNS
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)essv6788393
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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