A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34717



Internal ID12644067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17092311..17391136hg38UCSC Ensembl
Innerchr7:17131935..17430760hg19UCSC Ensembl
Innerchr7:17098460..17397285hg18UCSC Ensembl
Innerchr7:16905175..17204000hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38298826
hg19298826
hg18298826
hg17298826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978368, essv6978369, essv6978367, essv6978366, essv6978370
SamplesNA19007
Known GenesAHR
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)esv34717
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