A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4894989



Internal ID7133935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:58620669..58620970hg38UCSC Ensembl
Outerchr15:58620476..58621181hg38UCSC Ensembl
Innerchr15:58912868..58913169hg19UCSC Ensembl
Outerchr15:58912675..58913380hg19UCSC Ensembl
Innerchr15:56700160..56700461hg18UCSC Ensembl
Outerchr15:56699967..56700672hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38706
hg19706
hg18706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2129733
Supporting Variants
SamplesNA18507
Known GenesADAM10
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)essv4894989
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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