A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987761



Internal ID12978169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129338408..129406408hg38UCSC Ensembl
Innerchr5:128674101..128742101hg19UCSC Ensembl
Innerchr5:128702000..128770000hg18UCSC Ensembl
Innerchr5:128702000..128770000hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3868001
hg1968001
hg1868001
hg1768001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34881
Supporting Variants
SamplesNA07029
Known GenesMIR4460
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987761
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