A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10470887



Internal ID3400320
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590445
Supporting Variants
SamplesHG03048
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10470887
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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