A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751989



Internal ID12638855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197748569..198106887hg38UCSC Ensembl
Innerchr3:197475440..197833758hg19UCSC Ensembl
Innerchr3:198959837..199318155hg18UCSC Ensembl
Innerchr3:198963750..199322068hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38358319
hg19358319
hg18358319
hg17358319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985253, essv6988911, essv6985254, essv6987193
SamplesSPC_13
Known GenesANKRD18DP, FYTTD1, IQCG, KIAA0226, LMLN, LRCH3, RPL35A
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)esv2751989
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