A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2074151



Internal ID7398576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:7751867..7752078hg38UCSC Ensembl
Outerchr10:7751690..7752281hg38UCSC Ensembl
Innerchr10:7793830..7794041hg19UCSC Ensembl
Outerchr10:7793653..7794244hg19UCSC Ensembl
Innerchr10:7833836..7834047hg18UCSC Ensembl
Outerchr10:7833659..7834250hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38592
hg19592
hg18592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4566962
SamplesNA18507
Known GenesKIN
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)esv2074151
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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