A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443812



Internal ID15290765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72060752..72077750hg38UCSC Ensembl
Innerchr16:72061752..72076750hg38UCSC Ensembl
Outerchr16:72059752..72078750hg38UCSC Ensembl
chr16:72094651..72111649hg19UCSC Ensembl
Innerchr16:72095651..72110649hg19UCSC Ensembl
Outerchr16:72093651..72112649hg19UCSC Ensembl
chr16:70652152..70669150hg18UCSC Ensembl
Innerchr16:70653152..70668150hg18UCSC Ensembl
Outerchr16:70651152..70670150hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3816999
hg1916999
hg1816999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1636e59
Supporting Variantsessv8690424
SamplesNA19240
Known GenesHP, HPR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443812
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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