A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751052



Internal ID12637918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31072776..31257350hg38UCSC Ensembl
Innerchr12:31225710..31410284hg19UCSC Ensembl
Innerchr12:31116977..31301551hg18UCSC Ensembl
Innerchr12:31116977..31301551hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38184575
hg19184575
hg18184575
hg17184575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e55
Supporting Variantsessv6981315, essv6988386, essv6985541, essv6981314
SamplesBEC_385
Known GenesDDX11, DDX11-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751052
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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