A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2477686



Internal ID8194558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54827337..54845182hg38UCSC Ensembl
Innerchr19:55338792..55356637hg19UCSC Ensembl
Innerchr19:60030604..60048449hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817846
hg1917846
hg1817846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5361811
SamplesNA18507
Known GenesKIR2DS4, KIR3DL1
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)esv2477686
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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