A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785889



Internal ID18826017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:53664764..53756994hg38UCSC Ensembl
Innerchr16:53698676..53790906hg19UCSC Ensembl
Innerchr16:52256177..52348407hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3892231
hg1992231
hg1892231
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892861
Supporting Variants
Samples
Known GenesFTO, RPGRIP1L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785889
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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