A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782436



Internal ID18832918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10947470..10959497hg38UCSC Ensembl
Innerchr18:10947468..10959495hg19UCSC Ensembl
Innerchr18:10937468..10949495hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3812028
hg1912028
hg1812028
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893074
Supporting Variants
Samples
Known GenesPIEZO2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782436
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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