A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2077920



Internal ID7402345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33081860..33082139hg38UCSC Ensembl
Outerchr19:33081694..33082287hg38UCSC Ensembl
Innerchr19:33572766..33573045hg19UCSC Ensembl
Outerchr19:33572600..33573193hg19UCSC Ensembl
Innerchr19:38264606..38264885hg18UCSC Ensembl
Outerchr19:38264440..38265033hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4601189
SamplesNA18507
Known GenesGPATCH1
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)esv2077920
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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