A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302950



Internal ID15149898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139144348..139144496hg38UCSC Ensembl
InnerchrX:139144422..139144422hg38UCSC Ensembl
OuterchrX:139144248..139144596hg38UCSC Ensembl
chrX:138226510..138226658hg19UCSC Ensembl
InnerchrX:138226584..138226584hg19UCSC Ensembl
OuterchrX:138226410..138226758hg19UCSC Ensembl
chrX:138054176..138054324hg18UCSC Ensembl
InnerchrX:138054250..138054250hg18UCSC Ensembl
OuterchrX:138054076..138054424hg18UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38149
hg19149
hg18149
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738944, essv7735648, essv7734785, essv7738100, essv7737793, essv7738755, essv7734836, essv7731812, essv7734131
SamplesNA18861, NA18507, NA18951, NA18907, NA18573, NA19257, NA19225, NA18542, NA18564
Known GenesFGF13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302950
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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