A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12505751



Internal ID6719520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112593981..112609574hg38UCSC Ensembl
Innerchr6:112594006..112609550hg38UCSC Ensembl
Outerchr6:112593957..112609599hg38UCSC Ensembl
chr6:112915183..112930776hg19UCSC Ensembl
Innerchr6:112915208..112930752hg19UCSC Ensembl
Outerchr6:112915159..112930801hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3815594
hg1915594
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610398
Supporting Variants
SamplesNA20850
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12505751
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