A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588596



Internal ID6976012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203586793..203597046hg38UCSC Ensembl
Innerchr1:203586943..203596896hg38UCSC Ensembl
Outerchr1:203586643..203597196hg38UCSC Ensembl
chr1:203555921..203566174hg19UCSC Ensembl
Innerchr1:203556071..203566024hg19UCSC Ensembl
Outerchr1:203555771..203566324hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3810254
hg1910254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10265288, essv10265287, essv10265286
SamplesHG03974, HG04219, HG03882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588596
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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