A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689892



Internal ID15096258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21400430..21406628hg38UCSC Ensembl
Innerchr16:21401430..21405628hg38UCSC Ensembl
Outerchr16:21399430..21407628hg38UCSC Ensembl
chr16:21411751..21417949hg19UCSC Ensembl
Innerchr16:21412751..21416949hg19UCSC Ensembl
Outerchr16:21410751..21418949hg19UCSC Ensembl
chr16:21319252..21325450hg18UCSC Ensembl
Innerchr16:21320252..21324450hg18UCSC Ensembl
Outerchr16:21318252..21326450hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg386199
hg196199
hg186199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3325121
Supporting Variants
SamplesNA19240
Known GenesNPIPB3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689892
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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