A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2623923



Internal ID8687481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:101494258..101496599hg38UCSC Ensembl
Innerchr9:104256540..104258881hg19UCSC Ensembl
Innerchr9:103296361..103298702hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg382342
hg192342
hg182342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5290507
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)esv2623923
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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