A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10425129



Internal ID5986681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19787482..19788071hg38UCSC Ensembl
Innerchr2:19787482..19788071hg38UCSC Ensembl
Outerchr2:19787159..19788257hg38UCSC Ensembl
chr2:19987243..19987832hg19UCSC Ensembl
Innerchr2:19987243..19987832hg19UCSC Ensembl
Outerchr2:19986920..19988018hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589989
Supporting Variants
SamplesNA19391
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10425129
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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