A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2568009



Internal ID8631568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9398339..9579002hg38UCSC Ensembl
Innerchr12:9550935..9731598hg19UCSC Ensembl
Innerchr12:9442202..9622865hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38180664
hg19180664
hg18180664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5358262
SamplesNA18507
Known GenesDDX12P
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)esv2568009
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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