A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2372613



Internal ID7697038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77376550..77376710hg38UCSC Ensembl
Outerchr10:77376450..77376827hg38UCSC Ensembl
Innerchr10:79136308..79136468hg19UCSC Ensembl
Outerchr10:79136208..79136585hg19UCSC Ensembl
Innerchr10:78806314..78806474hg18UCSC Ensembl
Outerchr10:78806214..78806591hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38378
hg19378
hg18378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4620133
SamplesNA18507
Known GenesKCNMA1
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)esv2372613
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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