A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642606



Internal ID7029375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56195446..56201523hg38UCSC Ensembl
Innerchr18:56195459..56201511hg38UCSC Ensembl
Outerchr18:56195434..56201536hg38UCSC Ensembl
chr18:53862677..53868754hg19UCSC Ensembl
Innerchr18:53862690..53868742hg19UCSC Ensembl
Outerchr18:53862665..53868767hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg386078
hg196078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15886479
SamplesHG02938
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642606
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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