A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14567205



Internal ID4529938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90423328..90490481hg38UCSC Ensembl
Innerchr12:90423328..90490481hg38UCSC Ensembl
Outerchr12:90422828..90490981hg38UCSC Ensembl
chr12:90817105..90884258hg19UCSC Ensembl
Innerchr12:90817105..90884258hg19UCSC Ensembl
Outerchr12:90816605..90884758hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3867154
hg1967154
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630335
Supporting Variants
SamplesHG04025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14567205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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