A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981296



Internal ID12973114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:33587108..34218380hg38UCSC Ensembl
InnerchrX:33605225..34236497hg19UCSC Ensembl
InnerchrX:33515146..34146418hg18UCSC Ensembl
InnerchrX:33364882..33996154hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38631273
hg19631273
hg18631273
hg17631273
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981296
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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