A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2277399



Internal ID7948510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:143889682..143889858hg38UCSC Ensembl
Outerchr3:143889488..143890044hg38UCSC Ensembl
Innerchr3:143608524..143608700hg19UCSC Ensembl
Outerchr3:143608330..143608886hg19UCSC Ensembl
Innerchr3:145091214..145091390hg18UCSC Ensembl
Outerchr3:145091020..145091576hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38557
hg19557
hg18557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4814407
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)esv2277399
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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