A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608731



Internal ID6995655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38213803..38221832hg38UCSC Ensembl
Innerchr6:38213868..38221767hg38UCSC Ensembl
Outerchr6:38213738..38221897hg38UCSC Ensembl
chr6:38181579..38189608hg19UCSC Ensembl
Innerchr6:38181644..38189543hg19UCSC Ensembl
Outerchr6:38181514..38189673hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg388030
hg198030
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1178e214
Supporting Variantsessv12322524
SamplesHG01046
Known GenesBTBD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608731
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