A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2525559



Internal ID8242432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:56377096..56605214hg38UCSC Ensembl
Innerchr15:56669294..56897412hg19UCSC Ensembl
Innerchr15:54456586..54684704hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38228119
hg19228119
hg18228119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5361561
SamplesNA18507
Known GenesMNS1, TEX9
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)esv2525559
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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