A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592229



Internal ID6979556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:122183656..122302897hg38UCSC Ensembl
chr2:122941232..123060473hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38119242
hg19119242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10648077, essv10648078
SamplesHG01802, HG02283
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592229
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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