A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1974400



Internal ID7298825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12939652..12939674hg38UCSC Ensembl
Outerchr10:12939442..12939875hg38UCSC Ensembl
Innerchr10:12981652..12981674hg19UCSC Ensembl
Outerchr10:12981442..12981875hg19UCSC Ensembl
Innerchr10:13021658..13021680hg18UCSC Ensembl
Outerchr10:13021448..13021881hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38434
hg19434
hg18434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4915528
SamplesNA18507
Known GenesCCDC3
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)esv1974400
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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