A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629469



Internal ID7016291
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14478767
SamplesHG00464
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629469
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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