A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2530008



Internal ID8246880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:103014265..103017068hg38UCSC Ensembl
Innerchr9:105776547..105779350hg19UCSC Ensembl
Innerchr9:104816368..104819171hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg382804
hg192804
hg182804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5175875
SamplesNA18507
Known GenesCYLC2
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)esv2530008
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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