A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982926



Internal ID12974536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60946268..61008243hg38UCSC Ensembl
Innerchr3:60931940..60993915hg19UCSC Ensembl
Innerchr3:60906980..60968955hg18UCSC Ensembl
Innerchr3:60906980..60968955hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3861976
hg1961976
hg1861976
hg1761976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752012
Supporting Variants
SamplesBEC_527
Known GenesFHIT
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982926
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