A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2505508



Internal ID8569066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:114937580..114948977hg38UCSC Ensembl
Innerchr3:114656427..114667824hg19UCSC Ensembl
Innerchr3:116139117..116150514hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3811398
hg1911398
hg1811398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5273195
SamplesNA18507
Known GenesZBTB20
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)esv2505508
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