A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14485835



Internal ID4371050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55477603..55479533hg38UCSC Ensembl
Innerchr12:55477609..55479528hg38UCSC Ensembl
Outerchr12:55477598..55479539hg38UCSC Ensembl
chr12:55871387..55873317hg19UCSC Ensembl
Innerchr12:55871393..55873312hg19UCSC Ensembl
Outerchr12:55871382..55873323hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381931
hg191931
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629578
Supporting Variants
SamplesHG03899
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14485835
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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