A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15818634



Internal ID5820450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21667886..21690539hg38UCSC Ensembl
Innerchr18:21668386..21690039hg38UCSC Ensembl
Outerchr18:21666886..21691539hg38UCSC Ensembl
chr18:19247847..19270500hg19UCSC Ensembl
Innerchr18:19248347..19270000hg19UCSC Ensembl
Outerchr18:19246847..19271500hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3822654
hg1922654
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641939
Supporting Variants
SamplesHG00122
Known GenesABHD3, MIR320C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15818634
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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