A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2455918



Internal ID8519476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130095818..130196897hg38UCSC Ensembl
Innerchr3:129814661..129915740hg19UCSC Ensembl
Innerchr3:131297351..131398430hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38101080
hg19101080
hg18101080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5339120
SamplesNA18507
Known GenesALG1L2, FAM86HP
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)esv2455918
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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