A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2236589



Internal ID874682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39340746..39340810hg38UCSC Ensembl
Outerchr7:39340556..39340996hg38UCSC Ensembl
Innerchr7:39380345..39380409hg19UCSC Ensembl
Outerchr7:39380155..39380595hg19UCSC Ensembl
Innerchr7:39346870..39346934hg18UCSC Ensembl
Outerchr7:39346680..39347120hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38441
hg19441
hg18441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4619529
SamplesNA18507
Known GenesPOU6F2
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)esv2236589
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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