A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2395169



Internal ID7719594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27281071..27281385hg38UCSC Ensembl
Outerchr12:27280863..27281596hg38UCSC Ensembl
Innerchr12:27434004..27434318hg19UCSC Ensembl
Outerchr12:27433796..27434529hg19UCSC Ensembl
Innerchr12:27325271..27325585hg18UCSC Ensembl
Outerchr12:27325063..27325796hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38734
hg19734
hg18734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4616267
SamplesNA18507
Known GenesSTK38L
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2395169
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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