A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798635



Internal ID18832582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88755889..88764428hg38UCSC Ensembl
Innerchr16:88822297..88830836hg19UCSC Ensembl
Innerchr16:87349798..87358337hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg388540
hg198540
hg188540
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892936
Supporting Variants
Samples
Known GenesPIEZO1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798635
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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