A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2329918



Internal ID7654343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157576839..157577155hg38UCSC Ensembl
Outerchr2:157576643..157577354hg38UCSC Ensembl
Innerchr2:158433351..158433667hg19UCSC Ensembl
Outerchr2:158433155..158433866hg19UCSC Ensembl
Innerchr2:158141597..158141913hg18UCSC Ensembl
Outerchr2:158141401..158142112hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38712
hg19712
hg18712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4733758
SamplesNA18507
Known GenesACVR1C
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)esv2329918
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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