A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630311



Internal ID7017130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89027434..89028678hg38UCSC Ensembl
Innerchr12:89027443..89028670hg38UCSC Ensembl
Outerchr12:89027426..89028687hg38UCSC Ensembl
chr12:89421211..89422455hg19UCSC Ensembl
Innerchr12:89421220..89422447hg19UCSC Ensembl
Outerchr12:89421203..89422464hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381245
hg191245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14565600, essv14565598, essv14565599
SamplesHG03061, HG03084, HG03401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630311
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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