A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2267267



Internal ID7591692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161655877..161655892hg38UCSC Ensembl
Outerchr6:161655672..161656096hg38UCSC Ensembl
Innerchr6:162076909..162076924hg19UCSC Ensembl
Outerchr6:162076704..162077128hg19UCSC Ensembl
Innerchr6:161996899..161996914hg18UCSC Ensembl
Outerchr6:161996694..161997118hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38425
hg19425
hg18425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4558400
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)esv2267267
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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