A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389668



Internal ID15236635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11297133..11297133hg38UCSC Ensembl
Innerchr6:11297131..11297135hg38UCSC Ensembl
Outerchr6:11297131..11297135hg38UCSC Ensembl
chr6:11297366..11297366hg19UCSC Ensembl
Innerchr6:11297364..11297368hg19UCSC Ensembl
Outerchr6:11297364..11297368hg19UCSC Ensembl
chr6:11405352..11405352hg18UCSC Ensembl
Innerchr6:11405354..11405350hg18UCSC Ensembl
Outerchr6:11405350..11405354hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864550
SamplesNA12005
Known GenesNEDD9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389668
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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