A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740359



Internal ID10323995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:101836197..101836753hg38UCSC Ensembl
OuterchrX:101091170..101091725hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38557
hg19556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771346, essv6706976, essv6737355, essv6849979
SamplesSSM065, SSM050, SSM086, SSM006
Known GenesNXF5
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)esv2740359
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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