A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35030



Internal ID12644380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71778953..71879053hg38UCSC Ensembl
Innerchr12:72172733..72272833hg19UCSC Ensembl
Innerchr12:70459000..70559100hg18UCSC Ensembl
Innerchr12:70459000..70559100hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38100101
hg19100101
hg18100101
hg17100101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979324, essv6979323
SamplesNA18529
Known GenesMRS2P2, RAB21, TBC1D15
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35030
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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