A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987680



Internal ID12983519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208270177..208281834hg38UCSC Ensembl
Innerchr1:208443522..208455179hg19UCSC Ensembl
Innerchr1:206510145..206521802hg18UCSC Ensembl
Innerchr1:204831917..204843574hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3811658
hg1911658
hg1811658
hg1711658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750828
Supporting Variants
SamplesSPC_18
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987680
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