A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982407



Internal ID12973680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48639847..48733358hg38UCSC Ensembl
Innerchr6:48607583..48700995hg19UCSC Ensembl
Innerchr6:48715542..48808954hg18UCSC Ensembl
Innerchr6:48715542..48808954hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3893512
hg1993413
hg1893413
hg1793413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752125
Supporting Variants
SamplesBEC_437
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982407
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