A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34983



Internal ID12991019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4141244..4304562hg38UCSC Ensembl
Innerchr11:4162474..4325792hg19UCSC Ensembl
Innerchr11:4119050..4282368hg18UCSC Ensembl
Innerchr11:4119050..4282368hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38163319
hg19163319
hg18163319
hg17163319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980915, essv6980916, essv6985433, essv6988332
SamplesNA19144
Known GenesLOC100506082
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34983
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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