A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1997734



Internal ID7322159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70302443..70302753hg38UCSC Ensembl
Outerchr1:70302242..70302942hg38UCSC Ensembl
Innerchr1:70768126..70768436hg19UCSC Ensembl
Outerchr1:70767925..70768625hg19UCSC Ensembl
Innerchr1:70540714..70541024hg18UCSC Ensembl
Outerchr1:70540513..70541213hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38701
hg19701
hg18701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4539725
SamplesNA18507
Known GenesANKRD13C
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)esv1997734
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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