A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2028241



Internal ID7352666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146436677..146442436hg38UCSC Ensembl
Outerchr7:146436508..146442607hg38UCSC Ensembl
Innerchr7:146133769..146139528hg19UCSC Ensembl
Outerchr7:146133600..146139699hg19UCSC Ensembl
Innerchr7:145764702..145770461hg18UCSC Ensembl
Outerchr7:145764533..145770632hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg386100
hg196100
hg186100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4722272
SamplesNA18507
Known GenesCNTNAP2
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)esv2028241
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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