A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4613924



Internal ID6852870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77887941..77887990hg38UCSC Ensembl
Outerchr1:77887750..77888167hg38UCSC Ensembl
Innerchr1:78353626..78353675hg19UCSC Ensembl
Outerchr1:78353435..78353852hg19UCSC Ensembl
Innerchr1:78126214..78126263hg18UCSC Ensembl
Outerchr1:78126023..78126440hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38418
hg19418
hg18418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2329300
Supporting Variants
SamplesNA18507
Known GenesNEXN-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)essv4613924
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