A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2e194



Internal ID22757616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85282735..85283471hg38UCSC Ensembl
chr1:85748418..85749154hg19UCSC Ensembl
chr1:85521006..85521742hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38737
hg19737
hg18737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2065463, esv2304016
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)dgv2e194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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