A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5345450



Internal ID8437185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50054119..50057197hg38UCSC Ensembl
Innerchr19:50557376..50560454hg19UCSC Ensembl
Innerchr19:55249188..55252266hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383079
hg193079
hg183079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2527889
Supporting Variants
SamplesNA18507
Known GenesFLJ26850
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)essv5345450
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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