A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14480021



Internal ID5051491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51084595..51088454hg38UCSC Ensembl
Innerchr12:51084745..51088304hg38UCSC Ensembl
Outerchr12:51084445..51088604hg38UCSC Ensembl
chr12:51478378..51482237hg19UCSC Ensembl
Innerchr12:51478528..51482087hg19UCSC Ensembl
Outerchr12:51478228..51482387hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383860
hg193860
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629499
Supporting Variants
SamplesNA18532
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14480021
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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