A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865916



Internal ID12971445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58163568..58163579hg38UCSC Ensembl
Innerchr16:58163547..58163600hg38UCSC Ensembl
Outerchr16:58163536..58163611hg38UCSC Ensembl
chr16:58197472..58197483hg19UCSC Ensembl
Innerchr16:58197451..58197504hg19UCSC Ensembl
Outerchr16:58197440..58197515hg19UCSC Ensembl
chr16:56754973..56754984hg18UCSC Ensembl
Innerchr16:56755005..56754952hg18UCSC Ensembl
Outerchr16:56754941..56755016hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361478
Supporting Variants
SamplesNA12005
Known GenesCSNK2A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865916
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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