A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642444



Internal ID6682525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46849452..46851103hg38UCSC Ensembl
Innerchr18:46849452..46851103hg38UCSC Ensembl
Outerchr18:46849176..46851369hg38UCSC Ensembl
chr18:44429415..44431066hg19UCSC Ensembl
Innerchr18:44429415..44431066hg19UCSC Ensembl
Outerchr18:44429139..44431332hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381652
hg191652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15858028, essv15858025, essv15858029, essv15858030, essv15858031, essv15858027, essv15858026
SamplesHG02250, HG01860, HG01815, HG01816, HG02025, NA18952, NA18549
Known GenesPIAS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642444
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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