A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751796



Internal ID12638662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49995131..50282129hg38UCSC Ensembl
Innerchr19:50498388..50785386hg19UCSC Ensembl
Innerchr19:55190200..55477198hg18UCSC Ensembl
Innerchr19:55190200..55477198hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38286999
hg19286999
hg18286999
hg17286999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985811, essv6985812, essv6987270, essv6985813
SamplesSPC_56
Known GenesFLJ26850, IZUMO2, MYH14, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, VRK3, ZNF473
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751796
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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