A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979503



Internal ID12980282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31274844..31350444hg38UCSC Ensembl
Innerchr6:31242621..31318221hg19UCSC Ensembl
Innerchr6:31350600..31426200hg18UCSC Ensembl
Innerchr6:31350600..31426200hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3875601
hg1975601
hg1875601
hg1775601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35158
Supporting Variants
SamplesNA18563
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979503
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