A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587606



Internal ID6627907
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10152011
SamplesNA18740
Known GenesIL6R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587606
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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