A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593830



Internal ID6981152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194195385..194362743hg38UCSC Ensembl
chr2:195060109..195227467hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38167359
hg19167359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10809752, essv10809751
SamplesHG01072, HG00740
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593830
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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