A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15526515



Internal ID4455816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:76547316..76574219hg38UCSC Ensembl
chr16:76581213..76608116hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3826904
hg1926904
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639127
Supporting Variants
SamplesHG03963
Known GenesCNTNAP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15526515
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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