A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv538e214



Internal ID22756432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:76547316..76576532hg38UCSC Ensembl
chr16:76581213..76610429hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3829217
hg1929217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3639127, esv3639128
SamplesHG03963, HG01190
Known GenesCNTNAP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv538e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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