A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4563694



Internal ID7149326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:35089884..35089934hg38UCSC Ensembl
Outerchr8:35089692..35090131hg38UCSC Ensembl
Innerchr8:34947402..34947452hg19UCSC Ensembl
Outerchr8:34947210..34947649hg19UCSC Ensembl
Innerchr8:35066944..35066994hg18UCSC Ensembl
Outerchr8:35066752..35067191hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38440
hg19440
hg18440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2089041
Supporting Variants
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)essv4563694
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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