A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642363



Internal ID6682444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42745386..42746733hg38UCSC Ensembl
Innerchr18:42745411..42746709hg38UCSC Ensembl
Outerchr18:42745362..42746758hg38UCSC Ensembl
chr18:40325351..40326698hg19UCSC Ensembl
Innerchr18:40325376..40326674hg19UCSC Ensembl
Outerchr18:40325327..40326723hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381348
hg191348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15856316
SamplesHG04198
Known GenesRIT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642363
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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