A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2537683



Internal ID8254555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63102311..63104418hg38UCSC Ensembl
Innerchr20:61733663..61735770hg19UCSC Ensembl
Innerchr20:61204108..61206215hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382108
hg192108
hg182108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5299005
SamplesNA18507
Known GenesHAR1A, HAR1B
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)esv2537683
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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