A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15496313



Internal ID929283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:62491182..62495954hg38UCSC Ensembl
chr16:62525086..62529858hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg384773
hg194773
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638795
Supporting Variants
SamplesHG00554
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15496313
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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