A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2251377



Internal ID7575802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:24058886..24058952hg38UCSC Ensembl
Outerchr16:24058720..24059109hg38UCSC Ensembl
Innerchr16:24070207..24070273hg19UCSC Ensembl
Outerchr16:24070041..24070430hg19UCSC Ensembl
Innerchr16:23977708..23977774hg18UCSC Ensembl
Outerchr16:23977542..23977931hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38390
hg19390
hg18390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4720483
SamplesNA18507
Known GenesPRKCB
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)esv2251377
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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