A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4558555



Internal ID6797501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:130405833..130406166hg38UCSC Ensembl
OuterchrX:130405637..130406358hg38UCSC Ensembl
InnerchrX:129539807..129540140hg19UCSC Ensembl
OuterchrX:129539611..129540332hg19UCSC Ensembl
InnerchrX:129367488..129367821hg18UCSC Ensembl
OuterchrX:129367292..129368013hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38722
hg19722
hg18722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2017730
Supporting Variants
SamplesNA18507
Known GenesRBMX2
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)essv4558555
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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