A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985917



Internal ID12637568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31139486..31257350hg38UCSC Ensembl
Innerchr12:31292420..31410284hg19UCSC Ensembl
Innerchr12:31183687..31301551hg18UCSC Ensembl
Innerchr12:31183687..31301551hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38117865
hg19117865
hg18117865
hg17117865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751045
Supporting Variants
SamplesSPC_85
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985917
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