A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12172256



Internal ID4399697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1142821..1213954hg38UCSC Ensembl
Innerchr6:1143321..1213454hg38UCSC Ensembl
Outerchr6:1141821..1214954hg38UCSC Ensembl
chr6:1143056..1214189hg19UCSC Ensembl
Innerchr6:1143556..1213689hg19UCSC Ensembl
Outerchr6:1142056..1215189hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3871134
hg1971134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607884
Supporting Variants
SamplesHG03917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12172256
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