A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2111392



Internal ID749485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237521778..237521839hg38UCSC Ensembl
Outerchr2:237521588..237522014hg38UCSC Ensembl
Innerchr2:238430421..238430482hg19UCSC Ensembl
Outerchr2:238430231..238430657hg19UCSC Ensembl
Innerchr2:238095160..238095221hg18UCSC Ensembl
Outerchr2:238094970..238095396hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38427
hg19427
hg18427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4934794
SamplesNA18507
Known GenesMLPH
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)esv2111392
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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