A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10587591



Internal ID589407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94986856..95146757hg38UCSC Ensembl
chr2:95652601..95812502hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38159902
hg19159902
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591662
Supporting Variants
SamplesHG04171
Known GenesMAL, MRPS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10587591
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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