A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738100



Internal ID14372968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:139144422..139144423hg38UCSC Ensembl
OuterchrX:139144249..139144596hg38UCSC Ensembl
InnerchrX:138226584..138226585hg19UCSC Ensembl
OuterchrX:138226411..138226758hg19UCSC Ensembl
InnerchrX:138054251..138054250hg18UCSC Ensembl
OuterchrX:138054077..138054424hg18UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38348
hg19348
hg18348
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302950
Supporting Variants
SamplesNA18861
Known GenesFGF13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738100
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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