A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751072



Internal ID12637938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31086666..31346737hg38UCSC Ensembl
Innerchr12:31239600..31499671hg19UCSC Ensembl
Innerchr12:31130867..31390938hg18UCSC Ensembl
Innerchr12:31130867..31390938hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38260072
hg19260072
hg18260072
hg17260072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63e55
Supporting Variantsessv6986173, essv6982439
SamplesBEC_444
Known GenesDDX11, FAM60A, FLJ13224
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)esv2751072
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