A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647533



Internal ID6687588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29369918..29401274hg38UCSC Ensembl
chr22:29765907..29797263hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3831357
hg1931357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16401094, essv16401093, essv16401095
SamplesHG02648, NA20878, HG01889
Known GenesAP1B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647533
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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