A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35128



Internal ID12644478
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 StatusM
Merged Variants
Supporting Variantsessv6986585, essv6978290, essv6978291
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35128
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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