A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12211246



Internal ID6270411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18754339..18759675hg38UCSC Ensembl
Innerchr6:18754389..18759625hg38UCSC Ensembl
Outerchr6:18754219..18759795hg38UCSC Ensembl
chr6:18754570..18759906hg19UCSC Ensembl
Innerchr6:18754620..18759856hg19UCSC Ensembl
Outerchr6:18754450..18760026hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385337
hg195337
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608251
Supporting Variants
SamplesNA19788
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12211246
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