A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657468



Internal ID9923573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32661959..32758843hg38UCSC Ensembl
chr6:32629736..32726620hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3896885
hg1996885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1113e199
Supporting Variantsessv6477825, essv5908853, essv5431818, essv5444242, essv5782937
SamplesHG01134, NA18637, HG00119, NA18559, HG01055
Known GenesHLA-DQA2, HLA-DQB1, HLA-DQB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657468
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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