A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982114



Internal ID12974467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134478027..134849175hg38UCSC Ensembl
Innerchr11:134347921..134719069hg19UCSC Ensembl
Innerchr11:133853131..134224279hg18UCSC Ensembl
Innerchr11:133853131..134224279hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38371149
hg19371149
hg18371149
hg17371149
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982114
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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