A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350882



Internal ID14851146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29975596..29976694hg38UCSC Ensembl
Innerchr6:29975694..29976596hg38UCSC Ensembl
Outerchr6:29974596..29977694hg38UCSC Ensembl
chr6:29943373..29944471hg19UCSC Ensembl
Innerchr6:29943471..29944373hg19UCSC Ensembl
Outerchr6:29942373..29945471hg19UCSC Ensembl
chr6:30051352..30052450hg18UCSC Ensembl
Innerchr6:30052352..30051450hg18UCSC Ensembl
Outerchr6:30050352..30053450hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695234
SamplesNA19240
Known GenesHCG9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350882
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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