A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2627321



Internal ID8690879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135585304..135589593hg38UCSC Ensembl
Innerchr9:138477150..138481439hg19UCSC Ensembl
Innerchr9:137616971..137621260hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384290
hg194290
hg184290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5293463
SamplesNA18507
Known GenesLOC100130954
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)esv2627321
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer