A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6820346



Internal ID9873231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75482503..75532386hg38UCSC Ensembl
Outerchr16:75516401..75566284hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3849884
hg1949884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714710
Supporting Variants
SamplesSSM078
Known GenesCHST5, CHST6
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)essv6820346
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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