A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440837



Internal ID15287790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55687191..55687191hg38UCSC Ensembl
Innerchr16:55687190..55687192hg38UCSC Ensembl
Outerchr16:55687141..55687241hg38UCSC Ensembl
chr16:55721103..55721103hg19UCSC Ensembl
Innerchr16:55721102..55721104hg19UCSC Ensembl
Outerchr16:55721053..55721153hg19UCSC Ensembl
chr16:54278604..54278604hg18UCSC Ensembl
Innerchr16:54278605..54278603hg18UCSC Ensembl
Outerchr16:54278554..54278654hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38110
hg19110
hg18110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701315
SamplesNA12878
Known GenesSLC6A2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440837
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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