A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643112



Internal ID7029881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74264887..74268423hg38UCSC Ensembl
Innerchr18:74264934..74268377hg38UCSC Ensembl
Outerchr18:74264841..74268470hg38UCSC Ensembl
chr18:71932122..71935658hg19UCSC Ensembl
Innerchr18:71932169..71935612hg19UCSC Ensembl
Outerchr18:71932076..71935705hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg383537
hg193537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15934067, essv15934068
SamplesHG02017, NA06984
Known GenesCYB5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643112
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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