A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750986



Internal ID12984538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134478027..134888626hg38UCSC Ensembl
Innerchr11:134347921..134758520hg19UCSC Ensembl
Innerchr11:133853131..134263730hg18UCSC Ensembl
Innerchr11:133853131..134263730hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38410600
hg19410600
hg18410600
hg17410600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv55e55
Supporting Variantsessv6985112, essv6988892, essv6985113, essv6985114, essv6987159
SamplesSPC_10
Known GenesLOC283177
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)esv2750986
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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