A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750824



Internal ID12984376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196764003..196932623hg38UCSC Ensembl
Innerchr1:196733133..196901753hg19UCSC Ensembl
Innerchr1:194999756..195168376hg18UCSC Ensembl
Innerchr1:193464790..193633410hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38168621
hg19168621
hg18168621
hg17168621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13e55
Supporting Variantsessv6986161, essv6982412, essv6988533
SamplesBEC_438
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750824
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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