A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2631582



Internal ID8348454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14928189..15026261hg38UCSC Ensembl
Innerchr16:15022046..15120118hg19UCSC Ensembl
Innerchr16:14929547..15027619hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3898073
hg1998073
hg1898073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5220328
SamplesNA18507
Known GenesMIR1972-1, MIR1972-2, MIR6770-2, NPIPA1, PDXDC1
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)esv2631582
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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