A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590429



Internal ID6630715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39210723..39254479hg38UCSC Ensembl
chr2:39437864..39481620hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3843757
hg1943757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10470753
SamplesHG00437
Known GenesCDKL4, MAP4K3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590429
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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