A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2481942



Internal ID8198814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209903159..209920493hg38UCSC Ensembl
Innerchr1:210076504..210093838hg19UCSC Ensembl
Innerchr1:208143127..208160461hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3817335
hg1917335
hg1817335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5165590
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)esv2481942
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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