A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1995879



Internal ID633972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162431191..162431270hg38UCSC Ensembl
Outerchr6:162431026..162431426hg38UCSC Ensembl
Innerchr6:162852223..162852302hg19UCSC Ensembl
Outerchr6:162852058..162852458hg19UCSC Ensembl
Innerchr6:162772213..162772292hg18UCSC Ensembl
Outerchr6:162772048..162772448hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38401
hg19401
hg18401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4929184
SamplesNA18507
Known GenesPARK2
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)esv1995879
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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