A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12205169



Internal ID5415726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18326180..18327570hg38UCSC Ensembl
Innerchr6:18326180..18327570hg38UCSC Ensembl
Outerchr6:18325891..18327860hg38UCSC Ensembl
chr6:18326411..18327801hg19UCSC Ensembl
Innerchr6:18326411..18327801hg19UCSC Ensembl
Outerchr6:18326122..18328091hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381391
hg191391
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608235
Supporting Variants
SamplesNA18949
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12205169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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