A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10949564



Internal ID5123682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23871698..23872999hg38UCSC Ensembl
Innerchr3:23871707..23872991hg38UCSC Ensembl
Outerchr3:23871690..23873008hg38UCSC Ensembl
chr3:23913189..23914490hg19UCSC Ensembl
Innerchr3:23913198..23914482hg19UCSC Ensembl
Outerchr3:23913181..23914499hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595568
Supporting Variants
SamplesNA18564
Known GenesUBE2E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10949564
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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