A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629342



Internal ID7016164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43148010..43149443hg38UCSC Ensembl
Innerchr12:43148010..43149443hg38UCSC Ensembl
Outerchr12:43147845..43149588hg38UCSC Ensembl
chr12:43541813..43543246hg19UCSC Ensembl
Innerchr12:43541813..43543246hg19UCSC Ensembl
Outerchr12:43541648..43543391hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381434
hg191434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14462502, essv14462501
SamplesHG02541, NA19713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629342
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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