A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865913



Internal ID12971442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55402693..55402705hg38UCSC Ensembl
Innerchr16:55402695..55402703hg38UCSC Ensembl
Outerchr16:55402691..55402707hg38UCSC Ensembl
chr16:55436605..55436617hg19UCSC Ensembl
Innerchr16:55436607..55436615hg19UCSC Ensembl
Outerchr16:55436603..55436619hg19UCSC Ensembl
chr16:53994106..53994118hg18UCSC Ensembl
Innerchr16:53994108..53994116hg18UCSC Ensembl
Outerchr16:53994104..53994120hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3391813
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865913
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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