A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5309694



Internal ID8401429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23035810..23039810hg38UCSC Ensembl
Innerchr16:23047131..23051131hg19UCSC Ensembl
Innerchr16:22954632..22958632hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg384001
hg194001
hg184001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2566684
Supporting Variants
SamplesNA18507
Known Genes
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)essv5309694
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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