A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647558



Internal ID6687612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30060553..30066387hg38UCSC Ensembl
chr22:30456542..30462376hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg385835
hg195835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv838e214
Supporting Variantsessv16402633, essv16402632, essv16402631
SamplesHG02154, HG02383, HG02398
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647558
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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