A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10314008



Internal ID3543553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228845231..228846451hg38UCSC Ensembl
Innerchr1:228845281..228846401hg38UCSC Ensembl
Outerchr1:228845150..228846532hg38UCSC Ensembl
chr1:228980978..228982198hg19UCSC Ensembl
Innerchr1:228981028..228982148hg19UCSC Ensembl
Outerchr1:228980897..228982279hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381221
hg191221
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589059
Supporting Variants
SamplesHG03129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10314008
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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