A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12565647



Internal ID6853600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138171021..138171420hg38UCSC Ensembl
Innerchr6:138171021..138171420hg38UCSC Ensembl
Outerchr6:138170704..138171680hg38UCSC Ensembl
chr6:138492158..138492557hg19UCSC Ensembl
Innerchr6:138492158..138492557hg19UCSC Ensembl
Outerchr6:138491841..138492817hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610951
Supporting Variants
SamplesNA21088
Known GenesKIAA1244
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12565647
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