A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675075



Internal ID9594494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10689450..10689690hg38UCSC Ensembl
Outerchr18:10689413..10689740hg38UCSC Ensembl
Innerchr18:10689448..10689688hg19UCSC Ensembl
Outerchr18:10689411..10689738hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5907021, essv6336102
SamplesNA19720, NA19776
Known GenesPIEZO2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675075
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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