A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714652



Internal ID10298288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:68401980..68402639hg38UCSC Ensembl
Outerchr16:68435883..68436542hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809823
SamplesSSM075
Known GenesSMPD3
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)esv2714652
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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