A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2192771



Internal ID7517196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:44531265..44531403hg38UCSC Ensembl
OuterchrX:44531159..44531529hg38UCSC Ensembl
InnerchrX:44390511..44390649hg19UCSC Ensembl
OuterchrX:44390405..44390775hg19UCSC Ensembl
InnerchrX:44275455..44275593hg18UCSC Ensembl
OuterchrX:44275349..44275719hg18UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38371
hg19371
hg18371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4907027
SamplesNA18507
Known GenesFUNDC1
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)esv2192771
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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