A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647629



Internal ID6687683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33597215..33599043hg38UCSC Ensembl
Innerchr22:33597264..33598995hg38UCSC Ensembl
Outerchr22:33597167..33599092hg38UCSC Ensembl
chr22:33993201..33995029hg19UCSC Ensembl
Innerchr22:33993250..33994981hg19UCSC Ensembl
Outerchr22:33993153..33995078hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381829
hg191829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16408489
SamplesHG02442
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647629
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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