A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34534



Internal ID12990571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17604500..17793406hg38UCSC Ensembl
Innerchr5:17604609..17793515hg19UCSC Ensembl
Innerchr5:17647713..17829272hg18UCSC Ensembl
Innerchr5:17647713..17829272hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38188907
hg19188907
hg18181560
hg17181560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988062, essv6978868, essv6978869
SamplesNA12751
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34534
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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