A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14483421



Internal ID2385501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52956586..52962254hg38UCSC Ensembl
Innerchr12:52957086..52961754hg38UCSC Ensembl
Outerchr12:52955586..52963254hg38UCSC Ensembl
chr12:53350370..53356038hg19UCSC Ensembl
Innerchr12:53350870..53355538hg19UCSC Ensembl
Outerchr12:53349370..53357038hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg385669
hg195669
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629534
Supporting Variants
SamplesHG02113
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14483421
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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