A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15771617



Internal ID5773433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:168431..177684hg38UCSC Ensembl
Innerchr18:168931..177184hg38UCSC Ensembl
Outerchr18:167431..178684hg38UCSC Ensembl
chr18:168431..177684hg19UCSC Ensembl
Innerchr18:168931..177184hg19UCSC Ensembl
Outerchr18:167431..178684hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg389254
hg199254
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641476
Supporting Variants
SamplesHG01670
Known GenesUSP14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15771617
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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