A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589067



Internal ID6976484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229148402..229152904hg38UCSC Ensembl
Innerchr1:229148440..229152866hg38UCSC Ensembl
Outerchr1:229148364..229152942hg38UCSC Ensembl
chr1:229284149..229288651hg19UCSC Ensembl
Innerchr1:229284187..229288613hg19UCSC Ensembl
Outerchr1:229284111..229288689hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384503
hg194503
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10314078
SamplesHG03971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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