A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342205



Internal ID15189190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126102520..126102531hg38UCSC Ensembl
Innerchr6:126102510..126102538hg38UCSC Ensembl
Outerchr6:126102499..126102549hg38UCSC Ensembl
chr6:126423666..126423677hg19UCSC Ensembl
Innerchr6:126423656..126423684hg19UCSC Ensembl
Outerchr6:126423645..126423695hg19UCSC Ensembl
chr6:126465359..126465370hg18UCSC Ensembl
Innerchr6:126465377..126465349hg18UCSC Ensembl
Outerchr6:126465338..126465388hg18UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676185, essv8676184, essv8676186, essv8676183
SamplesNA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342205
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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