A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589076



Internal ID6976493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229412768..229418462hg38UCSC Ensembl
Innerchr1:229412818..229418412hg38UCSC Ensembl
Outerchr1:229412718..229418512hg38UCSC Ensembl
chr1:229548515..229554209hg19UCSC Ensembl
Innerchr1:229548565..229554159hg19UCSC Ensembl
Outerchr1:229548465..229554259hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg385695
hg195695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10315244
SamplesHG00140
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589076
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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