A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591816



Internal ID6979144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104368507..104388775hg38UCSC Ensembl
Innerchr2:104368507..104388775hg38UCSC Ensembl
Outerchr2:104368007..104389275hg38UCSC Ensembl
chr2:104984965..105005233hg19UCSC Ensembl
Innerchr2:104984965..105005233hg19UCSC Ensembl
Outerchr2:104984465..105005733hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3820269
hg1920269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598589
SamplesNA21091
Known GenesLOC100287010
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591816
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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