A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629444



Internal ID7016266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48798173..48807045hg38UCSC Ensembl
Innerchr12:48798223..48806995hg38UCSC Ensembl
Outerchr12:48798123..48807095hg38UCSC Ensembl
chr12:49191956..49200828hg19UCSC Ensembl
Innerchr12:49192006..49200778hg19UCSC Ensembl
Outerchr12:49191906..49200878hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg388873
hg198873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14476860, essv14476859
SamplesHG03821, NA20908
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629444
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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