A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592380



Internal ID6632663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128191967..128561450hg38UCSC Ensembl
Innerchr2:128192117..128561300hg38UCSC Ensembl
Outerchr2:128191817..128561600hg38UCSC Ensembl
chr2:128949541..129319024hg19UCSC Ensembl
Innerchr2:128949691..129318874hg19UCSC Ensembl
Outerchr2:128949391..129319174hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38369484
hg19369484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10664882
SamplesHG03788
Known GenesHS6ST1, UGGT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592380
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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