A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2168723



Internal ID7839834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:105909610..105909660hg38UCSC Ensembl
Outerchr6:105909420..105909837hg38UCSC Ensembl
Innerchr6:106357485..106357535hg19UCSC Ensembl
Outerchr6:106357295..106357712hg19UCSC Ensembl
Innerchr6:106464178..106464228hg18UCSC Ensembl
Outerchr6:106463988..106464405hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38418
hg19418
hg18418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4729641
SamplesNA18507
Known Genes
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)esv2168723
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