A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2313395



Internal ID7637820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148330145..148330893hg38UCSC Ensembl
Outerchr7:148330042..148330937hg38UCSC Ensembl
Innerchr7:148027237..148027985hg19UCSC Ensembl
Outerchr7:148027134..148028029hg19UCSC Ensembl
Innerchr7:147658170..147658918hg18UCSC Ensembl
Outerchr7:147658067..147658962hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38896
hg19896
hg18896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4519320
SamplesNA18507
Known GenesCNTNAP2, MIR548T
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)esv2313395
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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