A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592386



Internal ID6632669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128316086..128367910hg38UCSC Ensembl
chr2:129073660..129125484hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3851825
hg1951825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10665108, essv10665106, essv10665107
SamplesNA19440, HG03788, NA19448
Known GenesHS6ST1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592386
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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