A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12264790



Internal ID4071712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32347682..32348561hg38UCSC Ensembl
Innerchr6:32347732..32348332hg38UCSC Ensembl
Outerchr6:32347632..32348611hg38UCSC Ensembl
chr6:32315459..32316338hg19UCSC Ensembl
Innerchr6:32315509..32316109hg19UCSC Ensembl
Outerchr6:32315409..32316388hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608581
Supporting Variants
SamplesHG03705
Known GenesC6orf10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12264790
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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