A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865863



Internal ID14049548
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 StatusS
Merged Variantsesv3427100
Supporting Variants
SamplesNA18871
Known GenesIGSF6, METTL9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865863
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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