A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987910



Internal ID12972787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104686538..104947301hg38UCSC Ensembl
Innerchr5:104022239..104283002hg19UCSC Ensembl
Innerchr5:104050138..104310901hg18UCSC Ensembl
Innerchr5:104050138..104310901hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38260764
hg19260764
hg18260764
hg17260764
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)essv6987910
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