A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14478767



Internal ID874570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50028672..50030652hg38UCSC Ensembl
Innerchr12:50028672..50030652hg38UCSC Ensembl
Outerchr12:50028474..50030897hg38UCSC Ensembl
chr12:50422455..50424435hg19UCSC Ensembl
Innerchr12:50422455..50424435hg19UCSC Ensembl
Outerchr12:50422257..50424680hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381981
hg191981
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629469
Supporting Variants
SamplesHG00464
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14478767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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