A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12205157



Internal ID5085955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18319452..18321939hg38UCSC Ensembl
Innerchr6:18319452..18321939hg38UCSC Ensembl
Outerchr6:18319204..18322200hg38UCSC Ensembl
chr6:18319683..18322170hg19UCSC Ensembl
Innerchr6:18319683..18322170hg19UCSC Ensembl
Outerchr6:18319435..18322431hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382488
hg192488
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608234
Supporting Variants
SamplesNA18546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12205157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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