A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979532



Internal ID12633639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239761570..240135517hg38UCSC Ensembl
Innerchr1:239924870..240298817hg19UCSC Ensembl
Innerchr1:237991493..238365440hg18UCSC Ensembl
Innerchr1:236250911..236624858hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38373948
hg19373948
hg18373948
hg17373948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35011
Supporting Variants
SamplesNA18566
Known GenesCHRM3, CHRM3-AS1, FMN2, RPS7P5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979532
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