A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2405364



Internal ID7729789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152385294..152385646hg38UCSC Ensembl
Outerchr7:152385122..152385818hg38UCSC Ensembl
Innerchr7:152082379..152082731hg19UCSC Ensembl
Outerchr7:152082207..152082903hg19UCSC Ensembl
Innerchr7:151713312..151713664hg18UCSC Ensembl
Outerchr7:151713140..151713836hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38697
hg19697
hg18697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4931373
SamplesNA18507
Known GenesKMT2C
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)esv2405364
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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