A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2080157



Internal ID7404582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:15229695..15229884hg38UCSC Ensembl
Outerchr10:15229556..15230027hg38UCSC Ensembl
Innerchr10:15271694..15271883hg19UCSC Ensembl
Outerchr10:15271555..15272026hg19UCSC Ensembl
Innerchr10:15311700..15311889hg18UCSC Ensembl
Outerchr10:15311561..15312032hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38472
hg19472
hg18472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4852901
SamplesNA18507
Known GenesFAM171A1
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)esv2080157
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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