A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593709



Internal ID6981032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188154343..188204538hg38UCSC Ensembl
Innerchr2:188154493..188204388hg38UCSC Ensembl
Outerchr2:188154193..188204688hg38UCSC Ensembl
chr2:189019070..189069265hg19UCSC Ensembl
Innerchr2:189019220..189069115hg19UCSC Ensembl
Outerchr2:189018920..189069415hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3850196
hg1950196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10791843
SamplesHG00428
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593709
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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