A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752012



Internal ID12985564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60933722..61030367hg38UCSC Ensembl
Innerchr3:60919394..61016039hg19UCSC Ensembl
Innerchr3:60894434..60991079hg18UCSC Ensembl
Innerchr3:60894434..60991079hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3896646
hg1996646
hg1896646
hg1796646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982926, essv6982927, essv6982925
SamplesBEC_527
Known GenesFHIT
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752012
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer