A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2249804



Internal ID7574229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:86906414..86906758hg38UCSC Ensembl
Outerchr10:86906230..86906927hg38UCSC Ensembl
Innerchr10:88666171..88666515hg19UCSC Ensembl
Outerchr10:88665987..88666684hg19UCSC Ensembl
Innerchr10:88656151..88656495hg18UCSC Ensembl
Outerchr10:88655967..88656664hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38698
hg19698
hg18698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4839661
SamplesNA18507
Known GenesBMPR1A
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)esv2249804
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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