A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589851



Internal ID6977181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13645401..13647821hg38UCSC Ensembl
Innerchr2:13645416..13647806hg38UCSC Ensembl
Outerchr2:13645386..13647836hg38UCSC Ensembl
chr2:13785526..13787946hg19UCSC Ensembl
Innerchr2:13785541..13787931hg19UCSC Ensembl
Outerchr2:13785511..13787961hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382421
hg192421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10412846, essv10412847
SamplesHG03826, HG03896
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589851
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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