A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14462501



Internal ID2864329
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629342
Supporting Variants
SamplesHG02541
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14462501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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