A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2045613



Internal ID7370038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12518477..12520973hg38UCSC Ensembl
Outerchr10:12518281..12521160hg38UCSC Ensembl
Innerchr10:12560476..12562972hg19UCSC Ensembl
Outerchr10:12560280..12563159hg19UCSC Ensembl
Innerchr10:12600482..12602978hg18UCSC Ensembl
Outerchr10:12600286..12603165hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382880
hg192880
hg182880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4952786
SamplesNA18507
Known GenesCAMK1D
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)esv2045613
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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