A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384912



Internal ID14885193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29810761..29904752hg38UCSC Ensembl
Innerchr6:29810811..29904702hg38UCSC Ensembl
Outerchr6:29810711..29904802hg38UCSC Ensembl
chr6:29778538..29872529hg19UCSC Ensembl
Innerchr6:29778588..29872479hg19UCSC Ensembl
Outerchr6:29778488..29872579hg19UCSC Ensembl
chr6:29886517..29980508hg18UCSC Ensembl
Innerchr6:29886567..29980458hg18UCSC Ensembl
Outerchr6:29886467..29980558hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3893992
hg1993992
hg1893992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3468e59
Supporting Variantsessv8741244
SamplesNA19240
Known GenesHLA-G, HLA-H
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384912
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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