A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988855



Internal ID12636875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9944537..10311487hg38UCSC Ensembl
Innerchr4:9946161..10313111hg19UCSC Ensembl
Innerchr4:9555259..9922209hg18UCSC Ensembl
Innerchr4:9622430..9989380hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38366951
hg19366951
hg18366951
hg17366951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752052
Supporting Variants
SamplesSPC_181
Known GenesMIR3138, SLC2A9, WDR1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988855
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