A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5216296



Internal ID7961345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31092569..31175366hg38UCSC Ensembl
Innerchr12:31245503..31328300hg19UCSC Ensembl
Innerchr12:31136770..31219567hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3882798
hg1982798
hg1882798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2444127
Supporting Variants
SamplesNA18507
Known GenesDDX11
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)essv5216296
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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