A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2574735



Internal ID8638293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1581679..1612405hg38UCSC Ensembl
Innerchr20:1562325..1593051hg19UCSC Ensembl
Innerchr20:1510325..1541051hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3830727
hg1930727
hg1830727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5293388
SamplesNA18507
Known GenesSIRPB1
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)esv2574735
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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