A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15483333



Internal ID5485149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56626296..56678448hg38UCSC Ensembl
chr16:56660208..56712360hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3852153
hg1952153
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638702
Supporting Variants
SamplesHG00233
Known GenesMT1A, MT1B, MT1DP, MT1E, MT1F, MT1G, MT1H, MT1IP, MT1JP, MT1M
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15483333
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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