A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1978352



Internal ID616445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:13218875..13218888hg38UCSC Ensembl
Outerchr6:13218668..13219106hg38UCSC Ensembl
Innerchr6:13219107..13219120hg19UCSC Ensembl
Outerchr6:13218900..13219338hg19UCSC Ensembl
Innerchr6:13327086..13327099hg18UCSC Ensembl
Outerchr6:13326879..13327317hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38439
hg19439
hg18439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4939701
SamplesNA18507
Known GenesPHACTR1
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)esv1978352
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer