A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2002334



Internal ID7673445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:41443205..41443280hg38UCSC Ensembl
Outerchr4:41442982..41443488hg38UCSC Ensembl
Innerchr4:41445222..41445297hg19UCSC Ensembl
Outerchr4:41444999..41445505hg19UCSC Ensembl
Innerchr4:41139979..41140054hg18UCSC Ensembl
Outerchr4:41139756..41140262hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38507
hg19507
hg18507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4720640
SamplesNA18507
Known GenesLIMCH1
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)esv2002334
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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