A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2109102



Internal ID747195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21863280..21863324hg38UCSC Ensembl
Outerchr12:21863095..21863515hg38UCSC Ensembl
Innerchr12:22016214..22016258hg19UCSC Ensembl
Outerchr12:22016029..22016449hg19UCSC Ensembl
Innerchr12:21907481..21907525hg18UCSC Ensembl
Outerchr12:21907296..21907716hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38421
hg19421
hg18421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4748024
SamplesNA18507
Known GenesABCC9
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)esv2109102
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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