A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2581518



Internal ID8645076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:101514141..101521665hg38UCSC Ensembl
Innerchr1:101979697..101987221hg19UCSC Ensembl
Innerchr1:101752285..101759809hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg387525
hg197525
hg187525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5242892
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)esv2581518
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