A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15930865



Internal ID4813165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70286354..70288222hg38UCSC Ensembl
Innerchr18:70286375..70288201hg38UCSC Ensembl
Outerchr18:70286333..70288243hg38UCSC Ensembl
chr18:67953590..67955458hg19UCSC Ensembl
Innerchr18:67953611..67955437hg19UCSC Ensembl
Outerchr18:67953569..67955479hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg381869
hg191869
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642984
Supporting Variants
SamplesNA12004
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15930865
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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