A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410135



Internal ID3140375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22713495..22718401hg38UCSC Ensembl
Innerchr12:22713495..22718401hg38UCSC Ensembl
Outerchr12:22712995..22718901hg38UCSC Ensembl
chr12:22866429..22871335hg19UCSC Ensembl
Innerchr12:22866429..22871335hg19UCSC Ensembl
Outerchr12:22865929..22871835hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg384907
hg194907
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628838
Supporting Variants
SamplesHG02769
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410135
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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