A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986585



Internal ID12635051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:147067161..147587502hg38UCSC Ensembl
InnerchrX:146148679..146669020hg19UCSC Ensembl
InnerchrX:145956371..146476712hg18UCSC Ensembl
InnerchrX:145854225..146374566hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38520342
hg19520342
hg18520342
hg17520342
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986585
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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