A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427100



Internal ID14927370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21641783..21641824hg38UCSC Ensembl
Innerchr16:21641785..21641822hg38UCSC Ensembl
Outerchr16:21641781..21641826hg38UCSC Ensembl
chr16:21653104..21653145hg19UCSC Ensembl
Innerchr16:21653106..21653143hg19UCSC Ensembl
Outerchr16:21653102..21653147hg19UCSC Ensembl
chr16:21560605..21560646hg18UCSC Ensembl
Innerchr16:21560607..21560644hg18UCSC Ensembl
Outerchr16:21560603..21560648hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865863, essv7865865
SamplesNA18871, NA12005
Known GenesIGSF6, METTL9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427100
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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