A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4532021



Internal ID7117653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:121199062..121199390hg38UCSC Ensembl
OuterchrX:121198972..121199451hg38UCSC Ensembl
InnerchrX:120332916..120333244hg19UCSC Ensembl
OuterchrX:120332826..120333305hg19UCSC Ensembl
InnerchrX:120160597..120160925hg18UCSC Ensembl
OuterchrX:120160507..120160986hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38480
hg19480
hg18480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2410509
Supporting Variants
SamplesNA18507
Known Genes
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)essv4532021
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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