A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4724562



Internal ID6963508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149191580..149191685hg38UCSC Ensembl
Outerchr5:149191416..149191844hg38UCSC Ensembl
Innerchr5:148571143..148571248hg19UCSC Ensembl
Outerchr5:148570979..148571407hg19UCSC Ensembl
Innerchr5:148551336..148551441hg18UCSC Ensembl
Outerchr5:148551172..148551600hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38429
hg19429
hg18429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2159994
Supporting Variants
SamplesNA18507
Known GenesABLIM3
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)essv4724562
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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