A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642624



Internal ID7029393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57046651..57051034hg38UCSC Ensembl
Innerchr18:57046657..57051029hg38UCSC Ensembl
Outerchr18:57046646..57051040hg38UCSC Ensembl
chr18:54713882..54718265hg19UCSC Ensembl
Innerchr18:54713888..54718260hg19UCSC Ensembl
Outerchr18:54713877..54718271hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg384384
hg194384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15890672, essv15890671
SamplesHG03856, NA21091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642624
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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