A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2508507



Internal ID8572065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13965808..14025273hg38UCSC Ensembl
Innerchr21:15338129..15397594hg19UCSC Ensembl
Innerchr21:14260000..14319465hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3859466
hg1959466
hg1859466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5265172
SamplesNA18507
Known GenesANKRD20A11P
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)esv2508507
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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