A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628795



Internal ID6668937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20855183..20872725hg38UCSC Ensembl
Innerchr12:20855236..20872673hg38UCSC Ensembl
Outerchr12:20855131..20872778hg38UCSC Ensembl
chr12:21008117..21025659hg19UCSC Ensembl
Innerchr12:21008170..21025607hg19UCSC Ensembl
Outerchr12:21008065..21025712hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3817543
hg1917543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14405946, essv14405945, essv14405947
SamplesHG01052, HG00759, HG01531
Known GenesSLCO1B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628795
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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