A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14593838



Internal ID1918353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103286131..103291435hg38UCSC Ensembl
Innerchr12:103286131..103291435hg38UCSC Ensembl
Outerchr12:103285960..103291602hg38UCSC Ensembl
chr12:103679909..103685213hg19UCSC Ensembl
Innerchr12:103679909..103685213hg19UCSC Ensembl
Outerchr12:103679738..103685380hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg385305
hg195305
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630608
Supporting Variants
SamplesHG01795
Known GenesC12orf42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14593838
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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