A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983055



Internal ID12628069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31021299..31531799hg38UCSC Ensembl
Innerchr12:31174233..31684733hg19UCSC Ensembl
Innerchr12:31065500..31576000hg18UCSC Ensembl
Innerchr12:31065500..31576000hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38510501
hg19510501
hg18510501
hg17510501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751046
Supporting Variants
SamplesBEC_538
Known GenesDDX11, DDX11-AS1, DENND5B, FAM60A, FLJ13224
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983055
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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