A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10285483



Internal ID6565859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211807281..211808336hg38UCSC Ensembl
Innerchr1:211807287..211808331hg38UCSC Ensembl
Outerchr1:211807276..211808342hg38UCSC Ensembl
chr1:211980623..211981678hg19UCSC Ensembl
Innerchr1:211980629..211981673hg19UCSC Ensembl
Outerchr1:211980618..211981684hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588738
Supporting Variants
SamplesNA20758
Known GenesLPGAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10285483
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