A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800513



Internal ID19167371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20535754..20554263hg38UCSC Ensembl
Innerchr16:20547076..20565585hg19UCSC Ensembl
Innerchr16:20454577..20473086hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3818510
hg1918510
hg1818510
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892808
Supporting Variants
Samples
Known GenesACSM2B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800513
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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