A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2333221



Internal ID7657646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:22163146..22163227hg38UCSC Ensembl
Outerchr7:22162936..22163442hg38UCSC Ensembl
Innerchr7:22202764..22202845hg19UCSC Ensembl
Outerchr7:22202554..22203060hg19UCSC Ensembl
Innerchr7:22169289..22169370hg18UCSC Ensembl
Outerchr7:22169079..22169585hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38507
hg19507
hg18507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4629145
SamplesNA18507
Known GenesRAPGEF5
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)esv2333221
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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