A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629598



Internal ID6669737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56470278..56471015hg38UCSC Ensembl
Innerchr12:56470328..56470764hg38UCSC Ensembl
Outerchr12:56470109..56471184hg38UCSC Ensembl
chr12:56864062..56864799hg19UCSC Ensembl
Innerchr12:56864112..56864548hg19UCSC Ensembl
Outerchr12:56863893..56864968hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38738
hg19738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14486729, essv14486722, essv14486730, essv14486717, essv14486715, essv14486712, essv14486709, essv14486718, essv14486727, essv14486726, essv14486725, essv14486713, essv14486719, essv14486724, essv14486728, essv14486720, essv14486711, essv14486723, essv14486714, essv14486731, essv14486710, essv14486721, essv14486716
SamplesNA18998, HG01441, NA18647, HG02029, HG00452, HG00693, NA19728, HG02266, NA19771, NA18964, NA18966, HG01892, NA19789, HG01942, NA18956, NA18981, NA19064, NA19625, NA18945, HG01363, NA18994, HG00343, NA19676
Known GenesGLS2, SPRYD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629598
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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