A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590453



Internal ID6977782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40238817..40249727hg38UCSC Ensembl
chr2:40465957..40476867hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3810911
hg1910911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10470965
SamplesNA21124
Known GenesSLC8A1, SLC8A1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590453
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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