A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589882



Internal ID6977212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14338129..14485856hg38UCSC Ensembl
Innerchr2:14338142..14485844hg38UCSC Ensembl
Outerchr2:14338117..14485869hg38UCSC Ensembl
chr2:14478253..14625980hg19UCSC Ensembl
Innerchr2:14478266..14625968hg19UCSC Ensembl
Outerchr2:14478241..14625993hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38147728
hg19147728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv678e214
Supporting Variantsessv10414782
SamplesHG03790
Known GenesLINC00276
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589882
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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