A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2068753



Internal ID7739864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:31242749..31242852hg38UCSC Ensembl
Outerchr19:31242541..31243047hg38UCSC Ensembl
Innerchr19:31733655..31733758hg19UCSC Ensembl
Outerchr19:31733447..31733953hg19UCSC Ensembl
Innerchr19:36425495..36425598hg18UCSC Ensembl
Outerchr19:36425287..36425793hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38507
hg19507
hg18507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4671120
SamplesNA18507
Known Genes
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)esv2068753
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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