A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5258761



Internal ID8003810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70127945..70173305hg38UCSC Ensembl
Innerchr16:70161848..70207208hg19UCSC Ensembl
Innerchr16:68719349..68764709hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3845361
hg1945361
hg1845361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2577915
Supporting Variants
SamplesNA18507
Known GenesPDPR
MethodSequencing
AnalysisCopy number variations are detected using the SOLiD Human CNV Tool. Regions with poor mappability are filtered out from consideration and a log ratio of coverage is used to determine areas of increased copy number. A Hidden Markov Model converts increased coverage into discrete copy number states.
PlatformNot specified
CommentsoriginalFile=Yoruban_cnv.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5258761
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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