A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5353411



Internal ID8445146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:15664574..15716855hg38UCSC Ensembl
Innerchr6:15664805..15717086hg19UCSC Ensembl
Innerchr6:15772784..15825065hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3852282
hg1952282
hg1852282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2607475
Supporting Variants
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)essv5353411
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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