A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4836424



Internal ID7075370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139424858..139425211hg38UCSC Ensembl
Outerchr7:139424661..139425416hg38UCSC Ensembl
Innerchr7:139109604..139109957hg19UCSC Ensembl
Outerchr7:139109407..139110162hg19UCSC Ensembl
Innerchr7:138760144..138760497hg18UCSC Ensembl
Outerchr7:138759947..138760702hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38756
hg19756
hg18756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2275505
Supporting Variants
SamplesNA18507
Known GenesLOC100129148
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)essv4836424
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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