A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591788



Internal ID6632072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102335379..102355475hg38UCSC Ensembl
chr2:102951839..102971935hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3820097
hg1920097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598206
SamplesNA19043
Known GenesIL1RL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591788
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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