A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4721954



Internal ID7307586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137448592..137448732hg38UCSC Ensembl
Outerchr7:137448460..137448882hg38UCSC Ensembl
Innerchr7:137133338..137133478hg19UCSC Ensembl
Outerchr7:137133206..137133628hg19UCSC Ensembl
Innerchr7:136783878..136784018hg18UCSC Ensembl
Outerchr7:136783746..136784168hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38423
hg19423
hg18423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2224181
Supporting Variants
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)essv4721954
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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