A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34934



Internal ID12644284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25272817..25534512hg38UCSC Ensembl
Innerchr22:25668784..25930479hg19UCSC Ensembl
Innerchr22:23998784..24260479hg18UCSC Ensembl
Innerchr22:23993338..24255033hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38261696
hg19261696
hg18261696
hg17261696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175e55
Supporting Variantsessv6980122, essv6987008, essv6980121, essv6987009
SamplesNA18956
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)esv34934
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