A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2485694



Internal ID8549252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125906918..125927863hg38UCSC Ensembl
Innerchr10:127595487..127616432hg19UCSC Ensembl
Innerchr10:127585477..127606422hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3820946
hg1920946
hg1820946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5190247
SamplesNA18507
Known GenesFANK1
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)esv2485694
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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