A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630319



Internal ID6670456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89492279..89492984hg38UCSC Ensembl
Innerchr12:89492329..89492934hg38UCSC Ensembl
Outerchr12:89492175..89493088hg38UCSC Ensembl
chr12:89886056..89886761hg19UCSC Ensembl
Innerchr12:89886106..89886711hg19UCSC Ensembl
Outerchr12:89885952..89886865hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14565668, essv14565669
SamplesNA19452, NA19448
Known GenesPOC1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630319
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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