A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416573



Internal ID14916846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28325533..28325568hg38UCSC Ensembl
Innerchr6:28325549..28325552hg38UCSC Ensembl
Outerchr6:28325517..28325584hg38UCSC Ensembl
chr6:28293310..28293345hg19UCSC Ensembl
Innerchr6:28293326..28293329hg19UCSC Ensembl
Outerchr6:28293294..28293361hg19UCSC Ensembl
chr6:28401289..28401324hg18UCSC Ensembl
Innerchr6:28401305..28401308hg18UCSC Ensembl
Outerchr6:28401273..28401340hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8928411, essv8928410
SamplesNA18856, NA18858
Known GenesZSCAN31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416573
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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