A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740357



Internal ID10323993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:101432518..101442008hg38UCSC Ensembl
OuterchrX:100687506..100696996hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg389491
hg199491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760430, essv6957913, essv6671916, essv6939558
SamplesSSM061, SSM026, SSM031, SSM022
Known GenesARMCX4
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)esv2740357
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