A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4863264



Internal ID7102210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152351626..152351941hg38UCSC Ensembl
Outerchr1:152351534..152352033hg38UCSC Ensembl
Innerchr1:152324102..152324417hg19UCSC Ensembl
Outerchr1:152324010..152324509hg19UCSC Ensembl
Innerchr1:150590726..150591041hg18UCSC Ensembl
Outerchr1:150590634..150591133hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38500
hg19500
hg18500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2043587
Supporting Variants
SamplesNA18507
Known GenesFLG2, FLG-AS1
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)essv4863264
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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