A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758131



Internal ID18732377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:138899683..138900037hg38UCSC Ensembl
OuterchrX:138899680..138900040hg38UCSC Ensembl
InnerchrX:137981845..137982199hg19UCSC Ensembl
OuterchrX:137981842..137982202hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559384
Supporting Variants
Samples
Known GenesFGF13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758131
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer