A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34571



Internal ID12643922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3793886..4083561hg38UCSC Ensembl
Innerchr18:3793886..4083561hg19UCSC Ensembl
Innerchr18:3783886..4073561hg18UCSC Ensembl
Innerchr18:3783886..4073561hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38289676
hg19289676
hg18289676
hg17289676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv134e55
Supporting Variantsessv6978684, essv6986688, essv6990271, essv6978683, essv6978685
SamplesNA12145
Known GenesDLGAP1, DLGAP1-AS3, DLGAP1-AS4, MIR6718
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)esv34571
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