A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740498



Internal ID10324134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135614934..135912545hg38UCSC Ensembl
OuterchrX:134748859..134994704hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38297612
hg19245846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939575, essv6859821, essv6757761, essv6861500, essv6894013, essv6811718, essv6890663, essv6904239, essv6829887, essv6870202, essv6701647, essv6732854, essv6944065, essv6687717, essv6856035, essv6782777, essv6682610, essv6908155, essv6884613, essv6800010, essv6727639, essv6719980
SamplesSSM059, SSM046, SSM011, SSM087, SSM097, SSM039, SSM013, SSM009, SSM088, SSM023, SSM090, SSM035, SSM044, SSM014, SSM068, SSM007, SSM005, SSM076, SSM022, SSM010, SSM095, SSM098
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, CT45A5, CT45A6, SAGE1
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)esv2740498
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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