A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989591



Internal ID12973359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136708575..136829575hg38UCSC Ensembl
Innerchr8:137720818..137841818hg19UCSC Ensembl
Innerchr8:137790000..137911000hg18UCSC Ensembl
Innerchr8:137790000..137911000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38121001
hg19121001
hg18121001
hg17121001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752231
Supporting Variants
SamplesBEC_402
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989591
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