A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978290



Internal ID12635038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:147067161..147652644hg38UCSC Ensembl
InnerchrX:146148679..146734162hg19UCSC Ensembl
InnerchrX:145956371..146541854hg18UCSC Ensembl
InnerchrX:145854225..146439708hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38585484
hg19585484
hg18585484
hg17585484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35128
Supporting Variants
SamplesNA18997
Known GenesMIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR514A1, MIR514A2, MIR514A3, MIR514B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978290
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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