A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4505553



Internal ID7091185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:37812581..37812658hg38UCSC Ensembl
Outerchr15:37812389..37812855hg38UCSC Ensembl
Innerchr15:38104782..38104859hg19UCSC Ensembl
Outerchr15:38104590..38105056hg19UCSC Ensembl
Innerchr15:35892074..35892151hg18UCSC Ensembl
Outerchr15:35891882..35892348hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38467
hg19467
hg18467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1985341
Supporting Variants
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)essv4505553
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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