A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2031397



Internal ID7702508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137770536..137770899hg38UCSC Ensembl
Outerchr7:137770420..137771030hg38UCSC Ensembl
Innerchr7:137455282..137455645hg19UCSC Ensembl
Outerchr7:137455166..137455776hg19UCSC Ensembl
Innerchr7:137105822..137106185hg18UCSC Ensembl
Outerchr7:137105706..137106316hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38611
hg19611
hg18611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4612952
SamplesNA18507
Known GenesDGKI
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)esv2031397
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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