A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588743



Internal ID6976159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212123825..212128887hg38UCSC Ensembl
Innerchr1:212123825..212128887hg38UCSC Ensembl
Outerchr1:212123553..212129143hg38UCSC Ensembl
chr1:212297167..212302229hg19UCSC Ensembl
Innerchr1:212297167..212302229hg19UCSC Ensembl
Outerchr1:212296895..212302485hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg385063
hg195063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10285491
SamplesHG01350
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer