A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2556499



Internal ID8273371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110065604..110095380hg38UCSC Ensembl
Innerchr2:110823181..110852957hg19UCSC Ensembl
Innerchr2:110180470..110210246hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3829777
hg1929777
hg1829777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5321381
SamplesNA18507
Known GenesMALL, MIR4267, MIR4436B1, MIR4436B2
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)esv2556499
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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