A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751982



Internal ID12985534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:162965825..164074096hg38UCSC Ensembl
Innerchr3:162683613..163791884hg19UCSC Ensembl
Innerchr3:164166307..165274578hg18UCSC Ensembl
Innerchr3:164166315..165274586hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg381108272
hg191108272
hg181108272
hg171108272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985635, essv6981665, essv6985634, essv6981666, essv6981667
SamplesBEC_314
Known GenesCT64
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)esv2751982
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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