A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629483



Internal ID7016305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50493172..50494298hg38UCSC Ensembl
Innerchr12:50493178..50494292hg38UCSC Ensembl
Outerchr12:50493166..50494304hg38UCSC Ensembl
chr12:50886955..50888081hg19UCSC Ensembl
Innerchr12:50886961..50888075hg19UCSC Ensembl
Outerchr12:50886949..50888087hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381127
hg191127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14478866
SamplesNA18504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629483
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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