A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2370658



Internal ID7695083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201685235..201685311hg38UCSC Ensembl
Outerchr2:201685076..201685465hg38UCSC Ensembl
Innerchr2:202549958..202550034hg19UCSC Ensembl
Outerchr2:202549799..202550188hg19UCSC Ensembl
Innerchr2:202258203..202258279hg18UCSC Ensembl
Outerchr2:202258044..202258433hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38390
hg19390
hg18390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4749536
SamplesNA18507
Known GenesMPP4
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)esv2370658
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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