A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4618023



Internal ID6856969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239894220..239894514hg38UCSC Ensembl
Outerchr2:240833637..240833931hg19UCSC Ensembl
Innerchr2:240482671..240482815hg18UCSC Ensembl
Outerchr2:240482562..240482948hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38295
hg19295
hg18387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2360350
Supporting Variants
SamplesNA18507
Known Genes
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)essv4618023
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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