A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2278504



Internal ID7602929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226152860..226153088hg38UCSC Ensembl
Outerchr2:226152653..226153298hg38UCSC Ensembl
Innerchr2:227017576..227017804hg19UCSC Ensembl
Outerchr2:227017369..227018014hg19UCSC Ensembl
Innerchr2:226725820..226726048hg18UCSC Ensembl
Outerchr2:226725613..226726258hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38646
hg19646
hg18646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4752470
SamplesNA18507
Known GenesLOC646736
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)esv2278504
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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