A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752054



Internal ID12985606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104585969..104953865hg38UCSC Ensembl
Innerchr5:103921670..104289566hg19UCSC Ensembl
Innerchr5:103949569..104317465hg18UCSC Ensembl
Innerchr5:103949569..104317465hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38367897
hg19367897
hg18367897
hg17367897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987910, essv6989221, essv6981092, essv6981093, essv6981091
SamplesBEC_351
Known Genes
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)esv2752054
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