A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701315



Internal ID13642649
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 Flag1
Merged StatusS
Merged Variantsesv3440837
Supporting Variants
SamplesNA12878
Known GenesSLC6A2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701315
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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