A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589188



Internal ID6972123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235042638..235056097hg38UCSC Ensembl
Innerchr1:235042638..235056097hg38UCSC Ensembl
Outerchr1:235042138..235056464hg38UCSC Ensembl
chr1:235178385..235191844hg19UCSC Ensembl
Innerchr1:235178385..235191844hg19UCSC Ensembl
Outerchr1:235177885..235192344hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3813460
hg1913460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10331790
SamplesHG01344
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589188
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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