A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2168060



Internal ID7492485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27558492..27558606hg38UCSC Ensembl
Outerchr12:27558323..27558791hg38UCSC Ensembl
Innerchr12:27711425..27711539hg19UCSC Ensembl
Outerchr12:27711256..27711724hg19UCSC Ensembl
Innerchr12:27602692..27602806hg18UCSC Ensembl
Outerchr12:27602523..27602991hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38469
hg19469
hg18469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4763518
SamplesNA18507
Known GenesPPFIBP1
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)esv2168060
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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