A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4776528



Internal ID7362160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:88714369..88714742hg38UCSC Ensembl
Outerchr6:88714241..88714835hg38UCSC Ensembl
Innerchr6:89424088..89424461hg19UCSC Ensembl
Outerchr6:89423960..89424554hg19UCSC Ensembl
Innerchr6:89480807..89481180hg18UCSC Ensembl
Outerchr6:89480679..89481273hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38595
hg19595
hg18595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2000290
Supporting Variants
SamplesNA18507
Known GenesRNGTT
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)essv4776528
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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