A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984975



Internal ID12983830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48448447..48908580hg38UCSC Ensembl
Innerchr11:48469999..48930132hg19UCSC Ensembl
Innerchr11:48426575..48886708hg18UCSC Ensembl
Innerchr11:48426575..48886708hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38460134
hg19460134
hg18460134
hg17460134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751025
Supporting Variants
SamplesSPC_25
Known GenesOR4A47
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984975
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