A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15827215



Internal ID1917145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:27786844..27800500hg38UCSC Ensembl
Innerchr18:27786870..27800475hg38UCSC Ensembl
Outerchr18:27786819..27800526hg38UCSC Ensembl
chr18:25366808..25380464hg19UCSC Ensembl
Innerchr18:25366834..25380439hg19UCSC Ensembl
Outerchr18:25366783..25380490hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3813657
hg1913657
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642048
Supporting Variants
SamplesHG01795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15827215
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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