A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353206



Internal ID15200187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:60572186..60572194hg38UCSC Ensembl
Innerchr16:60572188..60572192hg38UCSC Ensembl
Outerchr16:60572184..60572196hg38UCSC Ensembl
chr16:60606090..60606098hg19UCSC Ensembl
Innerchr16:60606092..60606096hg19UCSC Ensembl
Outerchr16:60606088..60606100hg19UCSC Ensembl
chr16:59163591..59163599hg18UCSC Ensembl
Innerchr16:59163593..59163597hg18UCSC Ensembl
Outerchr16:59163589..59163601hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865922
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353206
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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