A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5374978



Internal ID8120027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43549461..43553636hg38UCSC Ensembl
Innerchr21:44969342..44973517hg19UCSC Ensembl
Innerchr21:43793770..43797945hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384176
hg194176
hg184176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2474541
Supporting Variants
SamplesNA18507
Known GenesHSF2BP
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)essv5374978
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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