A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643272



Internal ID7030041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78535545..78617799hg38UCSC Ensembl
Innerchr18:78535545..78617799hg38UCSC Ensembl
Outerchr18:78535045..78618299hg38UCSC Ensembl
chr18:76295545..76377799hg19UCSC Ensembl
Innerchr18:76295545..76377799hg19UCSC Ensembl
Outerchr18:76295045..76378299hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3882255
hg1982255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15953633, essv15953632, essv15953634, essv15953631
SamplesNA21092, NA06984, HG03061, NA20851
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643272
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer