A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630416



Internal ID6670553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94165604..94166296hg38UCSC Ensembl
Innerchr12:94165631..94166270hg38UCSC Ensembl
Outerchr12:94165578..94166323hg38UCSC Ensembl
chr12:94559380..94560072hg19UCSC Ensembl
Innerchr12:94559407..94560046hg19UCSC Ensembl
Outerchr12:94559354..94560099hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38693
hg19693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14571919, essv14571918, essv14571912, essv14571901, essv14571902, essv14571909, essv14571920, essv14571906, essv14571917, essv14571907, essv14571916, essv14571905, essv14571913, essv14571904, essv14571899, essv14571921, essv14571911, essv14571915, essv14571900, essv14571914, essv14571903, essv14571898, essv14571908, essv14571910
SamplesHG01775, HG00344, NA20516, NA11920, HG00139, HG00355, HG00242, HG00346, HG02684, HG00130, HG03636, NA12761, HG00150, HG00125, HG00254, HG01247, NA20773, NA19725, NA12283, HG00235, NA19756, HG00119, NA12717, HG01710
Known GenesPLXNC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630416
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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