A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10641189



Internal ID3995294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120740363..120751832hg38UCSC Ensembl
chr2:121497939..121509408hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3811470
hg1911470
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592187
Supporting Variants
SamplesHG03645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10641189
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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