A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590445



Internal ID6977774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40021465..40026435hg38UCSC Ensembl
chr2:40248605..40253575hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg384971
hg194971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10470885, essv10470886, essv10470887
SamplesHG01412, HG03048, HG01770
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590445
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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