A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629832



Internal ID7016653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67447470..67449569hg38UCSC Ensembl
Innerchr12:67447498..67449542hg38UCSC Ensembl
Outerchr12:67447443..67449597hg38UCSC Ensembl
chr12:67841250..67843349hg19UCSC Ensembl
Innerchr12:67841278..67843322hg19UCSC Ensembl
Outerchr12:67841223..67843377hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14519708
SamplesHG00599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629832
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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