A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630608



Internal ID7017425
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14593838
SamplesHG01795
Known GenesC12orf42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630608
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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