A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12329349



Internal ID4614418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42869605..42871560hg38UCSC Ensembl
Innerchr6:42869617..42871549hg38UCSC Ensembl
Outerchr6:42869594..42871572hg38UCSC Ensembl
chr6:42837343..42839298hg19UCSC Ensembl
Innerchr6:42837355..42839287hg19UCSC Ensembl
Outerchr6:42837332..42839310hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381956
hg191956
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608806
Supporting Variants
SamplesHG04152
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12329349
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