A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34312



Internal ID12990351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:81737473..82049063hg38UCSC Ensembl
Innerchr11:81448515..81760105hg19UCSC Ensembl
Innerchr11:81126163..81437753hg18UCSC Ensembl
Innerchr11:81126163..81437753hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38311591
hg19311591
hg18311591
hg17311591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53e55
Supporting Variantsessv6978926, essv6978927, essv6988073, essv6978925, essv6989054
SamplesNA12763
Known GenesMIR4300
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)esv34312
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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