A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981851



Internal ID12974019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31748528..31956590hg38UCSC Ensembl
InnerchrX:31766645..31974707hg19UCSC Ensembl
InnerchrX:31676566..31884628hg18UCSC Ensembl
InnerchrX:31526302..31734364hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38208063
hg19208063
hg18208063
hg17208063
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)essv6981851
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