A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1973761



Internal ID7644872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:36468301..36468612hg38UCSC Ensembl
Outerchr4:36468091..36468833hg38UCSC Ensembl
Innerchr4:36469923..36470234hg19UCSC Ensembl
Outerchr4:36469713..36470455hg19UCSC Ensembl
Innerchr4:36146318..36146629hg18UCSC Ensembl
Outerchr4:36146108..36146850hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38743
hg19743
hg18743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4990057
SamplesNA18507
Known Genes
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)esv1973761
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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