A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588640



Internal ID6628931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205603564..205607576hg38UCSC Ensembl
Innerchr1:205603600..205607540hg38UCSC Ensembl
Outerchr1:205603528..205607612hg38UCSC Ensembl
chr1:205572692..205576704hg19UCSC Ensembl
Innerchr1:205572728..205576668hg19UCSC Ensembl
Outerchr1:205572656..205576740hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384013
hg194013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10271189
SamplesHG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588640
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