A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5288249



Internal ID8033298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85508760..85540146hg38UCSC Ensembl
Innerchr1:85974443..86005829hg19UCSC Ensembl
Innerchr1:85747031..85778417hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3831387
hg1931387
hg1831387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2647869
Supporting Variants
SamplesNA18507
Known GenesDDAH1
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)essv5288249
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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