A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2214231



Internal ID7538656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:81961832..81961837hg38UCSC Ensembl
Outerchr7:81961615..81962050hg38UCSC Ensembl
Innerchr7:81591148..81591153hg19UCSC Ensembl
Outerchr7:81590931..81591366hg19UCSC Ensembl
Innerchr7:81429084..81429089hg18UCSC Ensembl
Outerchr7:81428867..81429302hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38436
hg19436
hg18436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4888240
SamplesNA18507
Known GenesCACNA2D1
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)esv2214231
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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