A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34621



Internal ID12990657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:20457265..20620275hg38UCSC Ensembl
Innerchr10:20746194..20909204hg19UCSC Ensembl
Innerchr10:20786200..20949210hg18UCSC Ensembl
Innerchr10:20786200..20949210hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38163011
hg19163011
hg18163011
hg17163011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988146, essv6979294, essv6979293, essv6988145, essv6979292
SamplesNA18524
Known GenesMIR4675
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)esv34621
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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