A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751025



Internal ID12984577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48408848..48950950hg38UCSC Ensembl
Innerchr11:48430400..48972502hg19UCSC Ensembl
Innerchr11:48386976..48929078hg18UCSC Ensembl
Innerchr11:48386976..48929078hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38542103
hg19542103
hg18542103
hg17542103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48e55
Supporting Variantsessv6984975, essv6984973, essv6984974
SamplesSPC_25
Known GenesOR4A47
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)esv2751025
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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