A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647748



Internal ID7034488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38963350..38983387hg38UCSC Ensembl
chr22:39359355..39379392hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3820038
hg1920038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16426480, essv16426478, essv16426482, essv16426477, essv16426475, essv16426479, essv16426483, essv16426481, essv16426485, essv16426474, essv16426476, essv16426484
SamplesNA11829, HG00449, NA19068, HG01168, HG00113, NA18640, NA20901, HG02008, NA19756, NA18972, HG00343, NA12776
Known GenesAPOBEC3A_B, APOBEC3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647748
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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