A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14522121



Internal ID4523937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70219974..70226855hg38UCSC Ensembl
Innerchr12:70220016..70226814hg38UCSC Ensembl
Outerchr12:70219933..70226897hg38UCSC Ensembl
chr12:70613754..70620635hg19UCSC Ensembl
Innerchr12:70613796..70620594hg19UCSC Ensembl
Outerchr12:70613713..70620677hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386882
hg196882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629882
Supporting Variants
SamplesNA19024
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14522121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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