A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865912



Internal ID13049302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51722816..51722826hg38UCSC Ensembl
Innerchr16:51722796..51722846hg38UCSC Ensembl
Outerchr16:51722786..51722856hg38UCSC Ensembl
chr16:51756727..51756737hg19UCSC Ensembl
Innerchr16:51756707..51756757hg19UCSC Ensembl
Outerchr16:51756697..51756767hg19UCSC Ensembl
chr16:50314228..50314238hg18UCSC Ensembl
Innerchr16:50314258..50314208hg18UCSC Ensembl
Outerchr16:50314198..50314268hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3418192
Supporting Variants
SamplesNA07346
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865912
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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