A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989266



Internal ID12974025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31748526..31956626hg38UCSC Ensembl
InnerchrX:31766643..31974743hg19UCSC Ensembl
InnerchrX:31676564..31884664hg18UCSC Ensembl
InnerchrX:31526300..31734400hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38208101
hg19208101
hg18208101
hg17208101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752321
Supporting Variants
SamplesBEC_493
Known GenesDMD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989266
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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