A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591924



Internal ID6632208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108286800..108390585hg38UCSC Ensembl
chr2:108903256..109007041hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38103786
hg19103786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10611041
SamplesNA18870
Known GenesSULT1C2, SULT1C2P1, SULT1C4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591924
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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