A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647209



Internal ID6687264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17151829..17264992hg38UCSC Ensembl
chr22:17632719..17745882hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38113164
hg19113164
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16352244, essv16352246, essv16352245
SamplesHG01277, NA19728, HG03777
Known GenesCECR1, CECR3, CECR5, CECR5-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647209
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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