A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628359



Internal ID7015183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4452961..4454685hg38UCSC Ensembl
Innerchr12:4452961..4454685hg38UCSC Ensembl
Outerchr12:4452615..4454970hg38UCSC Ensembl
chr12:4562127..4563851hg19UCSC Ensembl
Innerchr12:4562127..4563851hg19UCSC Ensembl
Outerchr12:4561781..4564136hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381725
hg191725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14340798, essv14340806, essv14340797, essv14340801, essv14340805, essv14340804, essv14340796, essv14340803, essv14340799, essv14340800, essv14340802
SamplesHG03965, NA20802, HG01522, HG03978, HG03696, NA20845, NA21086, NA20870, NA20804, HG00362, HG03886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628359
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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