A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15805289



Internal ID5807106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11147068..11148152hg38UCSC Ensembl
Innerchr18:11147087..11148134hg38UCSC Ensembl
Outerchr18:11147050..11148171hg38UCSC Ensembl
chr18:11147067..11148151hg19UCSC Ensembl
Innerchr18:11147086..11148133hg19UCSC Ensembl
Outerchr18:11147049..11148170hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381085
hg191085
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641788
Supporting Variants
SamplesNA20886
Known GenesPIEZO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15805289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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