A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2385521



Internal ID7709946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1371488..1371681hg38UCSC Ensembl
Outerchr12:1371407..1371744hg38UCSC Ensembl
Innerchr12:1480654..1480847hg19UCSC Ensembl
Outerchr12:1480573..1480910hg19UCSC Ensembl
Innerchr12:1350915..1351108hg18UCSC Ensembl
Outerchr12:1350834..1351171hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38338
hg19338
hg18338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4774049
SamplesNA18507
Known GenesERC1
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)esv2385521
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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