A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1943412



Internal ID7267837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747153..121748093hg38UCSC Ensembl
Outerchr12:121747091..121748135hg38UCSC Ensembl
Innerchr12:122185059..122185999hg19UCSC Ensembl
Outerchr12:122184997..122186041hg19UCSC Ensembl
Innerchr12:120669442..120670382hg18UCSC Ensembl
Outerchr12:120669380..120670424hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381045
hg191045
hg181045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4525050
SamplesNA18507
Known GenesTMEM120B
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)esv1943412
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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