A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590440



Internal ID6977769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39811342..39826497hg38UCSC Ensembl
Innerchr2:39811342..39826497hg38UCSC Ensembl
Outerchr2:39810842..39826997hg38UCSC Ensembl
chr2:40038482..40053637hg19UCSC Ensembl
Innerchr2:40038482..40053637hg19UCSC Ensembl
Outerchr2:40037982..40054137hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3815156
hg1915156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10470875, essv10470874
SamplesHG03235, HG03778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590440
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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