A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641788



Internal ID6681870
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15805289
SamplesNA20886
Known GenesPIEZO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer