A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697513



Internal ID15105816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154144184..154148083hg38UCSC Ensembl
InnerchrX:154145185..154147083hg38UCSC Ensembl
OuterchrX:154143184..154149083hg38UCSC Ensembl
chrX:153409658..153413556hg19UCSC Ensembl
InnerchrX:153410658..153412556hg19UCSC Ensembl
OuterchrX:153408658..153414556hg19UCSC Ensembl
chrX:153062852..153066750hg18UCSC Ensembl
InnerchrX:153063852..153065750hg18UCSC Ensembl
OuterchrX:153061852..153067750hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383900
hg193899
hg183899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434780
Supporting Variants
SamplesNA19240
Known GenesOPN1LW
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697513
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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