A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2323512



Internal ID7647937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61924933..61925260hg38UCSC Ensembl
Outerchr1:61924710..61925473hg38UCSC Ensembl
Innerchr1:62390605..62390932hg19UCSC Ensembl
Outerchr1:62390382..62391145hg19UCSC Ensembl
Innerchr1:62163193..62163520hg18UCSC Ensembl
Outerchr1:62162970..62163733hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38764
hg19764
hg18764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4506834
SamplesNA18507
Known GenesINADL
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)esv2323512
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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