A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981583



Internal ID12972361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189085075..189509310hg38UCSC Ensembl
Innerchr1:189054206..189478440hg19UCSC Ensembl
Innerchr1:187320829..187745063hg18UCSC Ensembl
Innerchr1:185785863..186210097hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38424236
hg19424235
hg18424235
hg17424235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750818
Supporting Variants
SamplesBEC_303
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981583
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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