A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800517



Internal ID18827252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:12407946..12414528hg38UCSC Ensembl
Innerchr11:12429493..12436075hg19UCSC Ensembl
Innerchr11:12386069..12392651hg18UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg386583
hg196583
hg186583
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891929
Supporting Variants
Samples
Known GenesPARVA
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800517
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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