A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2136665



Internal ID7461090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96929360..96929378hg38UCSC Ensembl
Outerchr12:96929161..96929576hg38UCSC Ensembl
Innerchr12:97323138..97323156hg19UCSC Ensembl
Outerchr12:97322939..97323354hg19UCSC Ensembl
Innerchr12:95847269..95847287hg18UCSC Ensembl
Outerchr12:95847070..95847485hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38416
hg19416
hg18416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4891833
SamplesNA18507
Known GenesNEDD1
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)esv2136665
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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