A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2102177



Internal ID7426602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196827842..196828069hg38UCSC Ensembl
Outerchr3:196827785..196828143hg38UCSC Ensembl
Innerchr3:196554713..196554940hg19UCSC Ensembl
Outerchr3:196554656..196555014hg19UCSC Ensembl
Innerchr3:198039110..198039337hg18UCSC Ensembl
Outerchr3:198039053..198039411hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38359
hg19359
hg18359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4823541
SamplesNA18507
Known GenesPAK2
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)esv2102177
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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