A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901074



Internal ID9947050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88831097..88831530hg38UCSC Ensembl
Outerchr16:88897505..88897938hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715053, esv2715054
Supporting Variants
SamplesSSM100
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)essv6901074
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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