A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34576



Internal ID12990613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8211609..8288409hg38UCSC Ensembl
Innerchr8:8069131..8145931hg19UCSC Ensembl
Innerchr8:8106541..8183341hg18UCSC Ensembl
Innerchr8:8106541..8183341hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3876801
hg1976801
hg1876801
hg1776801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980258, essv6980256, essv6980257
SamplesNA06991
Known GenesFAM86B3P
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)esv34576
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