A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2355906



Internal ID7680331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:114313465..114313757hg38UCSC Ensembl
Outerchr7:114313251..114313959hg38UCSC Ensembl
Innerchr7:113953520..113953812hg19UCSC Ensembl
Outerchr7:113953306..113954014hg19UCSC Ensembl
Innerchr7:113740756..113741048hg18UCSC Ensembl
Outerchr7:113740542..113741250hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38709
hg19709
hg18709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4794634
SamplesNA18507
Known GenesFOXP2
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)esv2355906
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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