A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15483332



Internal ID5485148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56621264..56685586hg38UCSC Ensembl
chr16:56655176..56719498hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3864323
hg1964323
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638701
Supporting Variants
SamplesHG01789
Known GenesMT1A, MT1B, MT1DP, MT1E, MT1F, MT1G, MT1H, MT1IP, MT1JP, MT1M, MT1X
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15483332
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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