A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10407022



Internal ID2444493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10864972..10875160hg38UCSC Ensembl
Innerchr2:10864972..10875160hg38UCSC Ensembl
Outerchr2:10864472..10875660hg38UCSC Ensembl
chr2:11005098..11015286hg19UCSC Ensembl
Innerchr2:11005098..11015286hg19UCSC Ensembl
Outerchr2:11004598..11015786hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3810189
hg1910189
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589810
Supporting Variants
SamplesHG02152
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10407022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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