A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15526517



Internal ID4455837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:76547700..76576532hg38UCSC Ensembl
chr16:76581597..76610429hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3828833
hg1928833
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639128
Supporting Variants
SamplesHG03963
Known GenesCNTNAP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15526517
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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