A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981093



Internal ID12972788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104869400..104917400hg38UCSC Ensembl
Innerchr5:104205101..104253101hg19UCSC Ensembl
Innerchr5:104233000..104281000hg18UCSC Ensembl
Innerchr5:104233000..104281000hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3848001
hg1948001
hg1848001
hg1748001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752054
Supporting Variants
SamplesBEC_351
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981093
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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