A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4918737



Internal ID7157683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139416057..139416087hg38UCSC Ensembl
Outerchr7:139415853..139416278hg38UCSC Ensembl
Innerchr7:139100803..139100833hg19UCSC Ensembl
Outerchr7:139100599..139101024hg19UCSC Ensembl
Innerchr7:138751343..138751373hg18UCSC Ensembl
Outerchr7:138751139..138751564hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38426
hg19426
hg18426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2371727
Supporting Variants
SamplesNA18507
Known GenesC7orf55-LUC7L2, LUC7L2
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)essv4918737
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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