A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10425739



Internal ID6528989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21049180..21052898hg38UCSC Ensembl
Innerchr2:21049230..21052848hg38UCSC Ensembl
Outerchr2:21049130..21052948hg38UCSC Ensembl
chr2:21272052..21275770hg19UCSC Ensembl
Innerchr2:21272102..21275720hg19UCSC Ensembl
Outerchr2:21272002..21275820hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg383719
hg193719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590006
Supporting Variants
SamplesNA20544
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10425739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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