A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15804505



Internal ID5806321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10833118..10833946hg38UCSC Ensembl
Innerchr18:10833129..10833936hg38UCSC Ensembl
Outerchr18:10833108..10833957hg38UCSC Ensembl
chr18:10833116..10833944hg19UCSC Ensembl
Innerchr18:10833127..10833934hg19UCSC Ensembl
Outerchr18:10833106..10833955hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641779
Supporting Variants
SamplesNA18641
Known GenesPIEZO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15804505
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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