A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601622



Internal ID6988658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102857829..102862554hg38UCSC Ensembl
Innerchr4:102857829..102862554hg38UCSC Ensembl
Outerchr4:102857681..102862722hg38UCSC Ensembl
chr4:103778986..103783711hg19UCSC Ensembl
Innerchr4:103778986..103783711hg19UCSC Ensembl
Outerchr4:103778838..103783879hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg384726
hg194726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11547873, essv11547885, essv11547875, essv11547878, essv11547874, essv11547863, essv11547887, essv11547864, essv11547876, essv11547870, essv11547882, essv11547859, essv11547884, essv11547871, essv11547868, essv11547857, essv11547879, essv11547867, essv11547865, essv11547862, essv11547866, essv11547869, essv11547856, essv11547888, essv11547883, essv11547881, essv11547861, essv11547886, essv11547858, essv11547877, essv11547872, essv11547880, essv11547860
SamplesHG00114, HG02652, HG00121, HG03687, NA20752, HG00127, NA20798, NA20795, HG01710, NA19782, HG00185, HG03868, NA20518, HG01626, HG00253, HG00149, NA12760, HG01789, HG00101, HG01612, HG01088, HG03829, HG03914, NA12043, NA20530, HG00107, HG01785, HG00259, NA12830, NA11843, NA12006, NA07000, HG00362
Known GenesUBE2D3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601622
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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