A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589379



Internal ID6976707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242862039..242916415hg38UCSC Ensembl
Innerchr1:242862539..242915915hg38UCSC Ensembl
Outerchr1:242861039..242917415hg38UCSC Ensembl
chr1:243025341..243079717hg19UCSC Ensembl
Innerchr1:243025841..243079217hg19UCSC Ensembl
Outerchr1:243024341..243080717hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3854377
hg1954377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv82e214
Supporting Variantsessv10356799
SamplesHG01525
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589379
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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