A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14521511



Internal ID2018948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68988841..68993921hg38UCSC Ensembl
Innerchr12:68988896..68993867hg38UCSC Ensembl
Outerchr12:68988787..68993976hg38UCSC Ensembl
chr12:69382621..69387701hg19UCSC Ensembl
Innerchr12:69382676..69387647hg19UCSC Ensembl
Outerchr12:69382567..69387756hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg385081
hg195081
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629863
Supporting Variants
SamplesHG01860
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14521511
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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