A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12312852



Internal ID3589304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34427751..34433303hg38UCSC Ensembl
Innerchr6:34427801..34433253hg38UCSC Ensembl
Outerchr6:34427684..34433370hg38UCSC Ensembl
chr6:34395528..34401080hg19UCSC Ensembl
Innerchr6:34395578..34401030hg19UCSC Ensembl
Outerchr6:34395461..34401147hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg385553
hg195553
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608659
Supporting Variants
SamplesHG03175
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12312852
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