A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337799



Internal ID14838069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30223230..30226628hg38UCSC Ensembl
Innerchr16:30224230..30225628hg38UCSC Ensembl
Outerchr16:30222230..30227628hg38UCSC Ensembl
chr16:30234551..30237949hg19UCSC Ensembl
Innerchr16:30235551..30236949hg19UCSC Ensembl
Outerchr16:30233551..30238949hg19UCSC Ensembl
chr16:30142052..30145450hg18UCSC Ensembl
Innerchr16:30143052..30144450hg18UCSC Ensembl
Outerchr16:30141052..30146450hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1516e59
Supporting Variantsessv8689954
SamplesNA19240
Known GenesLOC613037
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337799
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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