A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2105827



Internal ID7430252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5043637..5043945hg38UCSC Ensembl
Outerchr19:5043525..5044105hg38UCSC Ensembl
Innerchr19:5043648..5043956hg19UCSC Ensembl
Outerchr19:5043536..5044116hg19UCSC Ensembl
Innerchr19:4994648..4994956hg18UCSC Ensembl
Outerchr19:4994536..4995116hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38581
hg19581
hg18581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4968387
SamplesNA18507
Known GenesKDM4B
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)esv2105827
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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