A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981298



Internal ID12973124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:33627080..34330135hg38UCSC Ensembl
InnerchrX:33645197..34348252hg19UCSC Ensembl
InnerchrX:33555118..34258173hg18UCSC Ensembl
InnerchrX:33404854..34107909hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38703056
hg19703056
hg18703056
hg17703056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752322
Supporting Variants
SamplesBEC_379
Known GenesFAM47A, RNU6-16P
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981298
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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