A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10949082



Internal ID2492831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23451151..23455662hg38UCSC Ensembl
Innerchr3:23451180..23455634hg38UCSC Ensembl
Outerchr3:23451123..23455691hg38UCSC Ensembl
chr3:23492642..23497153hg19UCSC Ensembl
Innerchr3:23492671..23497125hg19UCSC Ensembl
Outerchr3:23492614..23497182hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg384512
hg194512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595562
Supporting Variants
SamplesHG02190
Known GenesMIR548AC, UBE2E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10949082
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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