A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647539



Internal ID6687594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29545022..29571563hg38UCSC Ensembl
chr22:29941011..29967552hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3826542
hg1926542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16401111
SamplesNA18549
Known GenesNIPSNAP1, THOC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647539
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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