A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2016346



Internal ID7340771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24177753..24177797hg38UCSC Ensembl
Outerchr12:24177566..24177990hg38UCSC Ensembl
Innerchr12:24330687..24330731hg19UCSC Ensembl
Outerchr12:24330500..24330924hg19UCSC Ensembl
Innerchr12:24221954..24221998hg18UCSC Ensembl
Outerchr12:24221767..24222191hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38425
hg19425
hg18425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4672971
SamplesNA18507
Known GenesSOX5
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)esv2016346
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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