A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35141



Internal ID12991177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30248452..30462802hg38UCSC Ensembl
Innerchr9:30248450..30462800hg19UCSC Ensembl
Innerchr9:30238450..30452800hg18UCSC Ensembl
Innerchr9:30238450..30452800hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38214351
hg19214351
hg18214351
hg17214351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985444, essv6980947, essv6985445, essv6980948, essv6980949
SamplesNA19152
Known GenesLOC401497
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)esv35141
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