A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667865



Internal ID9933970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32481947..32585854hg38UCSC Ensembl
Outerchr6:32481905..32585898hg38UCSC Ensembl
Innerchr6:32449724..32553631hg19UCSC Ensembl
Outerchr6:32449682..32553675hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38103994
hg19103994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1100e199
Supporting Variantsessv6560179, essv5516273
SamplesHG00360, HG00381
Known GenesHLA-DRB1, HLA-DRB5, HLA-DRB6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667865
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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