A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617295



Internal ID6657491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56248755..56255953hg38UCSC Ensembl
Innerchr8:56248755..56255953hg38UCSC Ensembl
Outerchr8:56248255..56256453hg38UCSC Ensembl
chr8:57161314..57168512hg19UCSC Ensembl
Innerchr8:57161314..57168512hg19UCSC Ensembl
Outerchr8:57160814..57169012hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387199
hg197199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1400e214
Supporting Variantsessv13204438
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617295
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