A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592218



Internal ID6979545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121795311..122152637hg38UCSC Ensembl
chr2:122552887..122910213hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38357327
hg19357327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10644435, essv10644436
SamplesHG03978, HG02283
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592218
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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