A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2013056



Internal ID7337482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5075934..5076630hg38UCSC Ensembl
Outerchr19:5075865..5076682hg38UCSC Ensembl
Innerchr19:5075945..5076641hg19UCSC Ensembl
Outerchr19:5075876..5076693hg19UCSC Ensembl
Innerchr19:5026945..5027641hg18UCSC Ensembl
Outerchr19:5026876..5027693hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38818
hg19818
hg18818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4722478
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)esv2013056
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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