A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647534



Internal ID6687589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29373805..29422615hg38UCSC Ensembl
chr22:29769794..29818604hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3848811
hg1948811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv837e214
Supporting Variantsessv16401096, essv16401097, essv16401098
SamplesHG02648, NA20878, HG01889
Known GenesAP1B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647534
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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