A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10152011



Internal ID153827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154417643..154422104hg38UCSC Ensembl
Innerchr1:154417674..154422073hg38UCSC Ensembl
Outerchr1:154417612..154422135hg38UCSC Ensembl
chr1:154390119..154394580hg19UCSC Ensembl
Innerchr1:154390150..154394549hg19UCSC Ensembl
Outerchr1:154390088..154394611hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384462
hg194462
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587606
Supporting Variants
SamplesNA18740
Known GenesIL6R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10152011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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