A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10146162



Internal ID629970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152472027..152483964hg38UCSC Ensembl
chr1:152444503..152456440hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3811938
hg1911938
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587553
Supporting Variants
SamplesHG00275
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10146162
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