A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1929634



Internal ID567729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20075968..20077645hg38UCSC Ensembl
Outerchr13:20075811..20077812hg38UCSC Ensembl
Innerchr13:20650108..20651785hg19UCSC Ensembl
Outerchr13:20649951..20651952hg19UCSC Ensembl
Innerchr13:19548108..19549785hg18UCSC Ensembl
Outerchr13:19547951..19549952hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg382002
hg192002
hg182002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4878830
SamplesNA18507
Known GenesZMYM2
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)esv1929634
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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