A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv524e214



Internal ID20121947
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3638702, esv3638701
SamplesHG00233, HG01789
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)dgv524e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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