A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986989



Internal ID12634387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107967114..108577610hg38UCSC Ensembl
Innerchr2:108583570..109194066hg19UCSC Ensembl
Innerchr2:107950002..108560498hg18UCSC Ensembl
Innerchr2:108042088..108652584hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38610497
hg19610497
hg18610497
hg17610497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34618
Supporting Variants
SamplesNA18872
Known GenesGCC2, LIMS1, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986989
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