A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14520144



Internal ID4521960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68764980..68768981hg38UCSC Ensembl
Innerchr12:68764980..68768981hg38UCSC Ensembl
Outerchr12:68764831..68769142hg38UCSC Ensembl
chr12:69158760..69162761hg19UCSC Ensembl
Innerchr12:69158760..69162761hg19UCSC Ensembl
Outerchr12:69158611..69162922hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg384002
hg194002
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629857
Supporting Variants
SamplesNA18533
Known GenesSLC35E3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14520144
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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