A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2648729



Internal ID8365601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154109553..154114442hg38UCSC Ensembl
Innerchr1:154082029..154086918hg19UCSC Ensembl
Innerchr1:152348653..152353542hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384890
hg194890
hg184890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5336500
SamplesNA18507
Known GenesNUP210L
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)esv2648729
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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