A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988493



Internal ID12974460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134486039..134846515hg38UCSC Ensembl
Innerchr11:134355933..134716409hg19UCSC Ensembl
Innerchr11:133861143..134221619hg18UCSC Ensembl
Innerchr11:133861143..134221619hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38360477
hg19360477
hg18360477
hg17360477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750985
Supporting Variants
SamplesBEC_521
Known GenesLOC283177
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988493
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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