A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740508



Internal ID10324144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:138908037..138908293hg38UCSC Ensembl
OuterchrX:137990199..137990455hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856038, essv6818829, essv6732865, essv6829898, essv6876138
SamplesSSM087, SSM092, SSM007, SSM078, SSM010
Known GenesFGF13
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2740508
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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