A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14623680



Internal ID5483000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124884415..124887894hg38UCSC Ensembl
Innerchr12:124884420..124887890hg38UCSC Ensembl
Outerchr12:124884411..124887899hg38UCSC Ensembl
chr12:125368961..125372440hg19UCSC Ensembl
Innerchr12:125368966..125372436hg19UCSC Ensembl
Outerchr12:125368957..125372445hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383480
hg193480
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631028
Supporting Variants
SamplesNA18978
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14623680
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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