A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678193



Internal ID13662467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81244407..81244426hg38UCSC Ensembl
Innerchr16:81244403..81244430hg38UCSC Ensembl
Outerchr16:81244384..81244449hg38UCSC Ensembl
chr16:81278012..81278031hg19UCSC Ensembl
Innerchr16:81278008..81278035hg19UCSC Ensembl
Outerchr16:81277989..81278054hg19UCSC Ensembl
chr16:79835513..79835532hg18UCSC Ensembl
Innerchr16:79835536..79835509hg18UCSC Ensembl
Outerchr16:79835490..79835555hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3409188
Supporting Variants
SamplesNA12878
Known GenesBCMO1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678193
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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