A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639553



Internal ID6679645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88572325..88575868hg38UCSC Ensembl
chr16:88638733..88642276hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg383544
hg193544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15566712, essv15566713, essv15566715, essv15566716, essv15566717, essv15566718, essv15566714
SamplesNA19257, HG02805, NA20127, NA18916, NA20334, NA20534, HG02819
Known GenesZC3H18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639553
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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