A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34329



Internal ID12990368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208273014..208281260hg38UCSC Ensembl
Innerchr1:208446359..208454605hg19UCSC Ensembl
Innerchr1:206512982..206521228hg18UCSC Ensembl
Innerchr1:204834754..204843000hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg388247
hg198247
hg188247
hg178247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15e55
Supporting Variantsessv6986690, essv6978692
SamplesNA12146
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)esv34329
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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