A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12346803



Internal ID5002944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51408751..51413467hg38UCSC Ensembl
Innerchr6:51408751..51413467hg38UCSC Ensembl
Outerchr6:51408251..51413967hg38UCSC Ensembl
chr6:51273549..51278265hg19UCSC Ensembl
Innerchr6:51273549..51278265hg19UCSC Ensembl
Outerchr6:51273049..51278765hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg384717
hg194717
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608974
Supporting Variants
SamplesNA18504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12346803
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