A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2354786



Internal ID7679211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29420490..29420817hg38UCSC Ensembl
Outerchr12:29420290..29421010hg38UCSC Ensembl
Innerchr12:29573423..29573750hg19UCSC Ensembl
Outerchr12:29573223..29573943hg19UCSC Ensembl
Innerchr12:29464690..29465017hg18UCSC Ensembl
Outerchr12:29464490..29465210hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38721
hg19721
hg18721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4952561
SamplesNA18507
Known GenesOVCH1-AS1
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)esv2354786
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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