A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4675163



Internal ID7260795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87575963..87576555hg38UCSC Ensembl
Outerchr6:87575908..87576614hg38UCSC Ensembl
Innerchr6:88285681..88286273hg19UCSC Ensembl
Outerchr6:88285626..88286332hg19UCSC Ensembl
Innerchr6:88342400..88342992hg18UCSC Ensembl
Outerchr6:88342345..88343051hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38707
hg19707
hg18707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2283561
Supporting Variants
SamplesNA18507
Known GenesRARS2
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)essv4675163
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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