A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001413



Internal ID6713552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11014274..11014328hg38UCSC Ensembl
chr18:11014272..11014326hg19UCSC Ensembl
chr18:11004272..11004326hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586000
SamplesHuRef
Known GenesPIEZO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001413
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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