A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980105



Internal ID12634582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160001753..160591238hg38UCSC Ensembl
Innerchr6:160422785..161012270hg19UCSC Ensembl
Innerchr6:160342775..160932260hg18UCSC Ensembl
Innerchr6:160393196..160982681hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38589486
hg19589486
hg18589486
hg17589486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35098
Supporting Variants
SamplesNA18953
Known GenesAIRN, IGF2R, LOC729603, LPA, LPAL2, SLC22A1, SLC22A2, SLC22A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980105
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