A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752057



Internal ID12985609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113580701..113610295hg38UCSC Ensembl
Innerchr5:112916398..112945992hg19UCSC Ensembl
Innerchr5:112944297..112973891hg18UCSC Ensembl
Innerchr5:112944297..112973891hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3829595
hg1929595
hg1829595
hg1729595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983662, essv6983663
SamplesBEC_678
Known GenesYTHDC2
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)esv2752057
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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