A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592397



Internal ID6979724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128732576..128939941hg38UCSC Ensembl
chr2:129490150..129697515hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38207366
hg19207366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10665155
SamplesHG03788
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592397
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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