A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792322



Internal ID10197194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:929919..930334hg38UCSC Ensembl
Outerchr16:979919..980334hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750265, esv2750262
Supporting Variants
SamplesSSM070
Known GenesLMF1
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)essv6792322
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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