A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2080091



Internal ID718184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:151737895..151738243hg38UCSC Ensembl
Outerchr7:151737767..151738348hg38UCSC Ensembl
Innerchr7:151434981..151435329hg19UCSC Ensembl
Outerchr7:151434853..151435434hg19UCSC Ensembl
Innerchr7:151065914..151066262hg18UCSC Ensembl
Outerchr7:151065786..151066367hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38582
hg19582
hg18582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4956833
SamplesNA18507
Known GenesPRKAG2
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)esv2080091
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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