A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740623



Internal ID9974966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152900960..152901543hg38UCSC Ensembl
OuterchrX:152069504..152070087hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856062
SamplesSSM087
Known Genes
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)esv2740623
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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