A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639128



Internal ID7025911
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538e214
Supporting Variantsessv15526516, essv15526517
SamplesHG03963, HG01190
Known GenesCNTNAP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639128
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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