A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642459



Internal ID7029229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47544898..47549281hg38UCSC Ensembl
Innerchr18:47544898..47549281hg38UCSC Ensembl
Outerchr18:47544696..47549498hg38UCSC Ensembl
chr18:45071269..45075652hg19UCSC Ensembl
Innerchr18:45071269..45075652hg19UCSC Ensembl
Outerchr18:45071067..45075869hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384384
hg194384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15860094
SamplesHG02702
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642459
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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