A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15385810



Internal ID5387626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16131123..16180113hg38UCSC Ensembl
chr16:16224980..16273970hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3848991
hg1948991
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638052
Supporting Variants
SamplesHG03949
Known GenesABCC1, ABCC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15385810
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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