A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2035676



Internal ID7360101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63575467..63575561hg38UCSC Ensembl
Outerchr2:63575265..63575697hg38UCSC Ensembl
Innerchr2:63802601..63802695hg19UCSC Ensembl
Outerchr2:63802399..63802831hg19UCSC Ensembl
Innerchr2:63656105..63656199hg18UCSC Ensembl
Outerchr2:63655903..63656335hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38433
hg19433
hg18433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4595316
SamplesNA18507
Known GenesWDPCP
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)esv2035676
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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