A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643357



Internal ID6683437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:640060..675990hg38UCSC Ensembl
chr19:640060..675990hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3835931
hg1935931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15967915, essv15967913, essv15967907, essv15967916, essv15967911, essv15967898, essv15967902, essv15967891, essv15967896, essv15967917, essv15967889, essv15967914, essv15967888, essv15967900, essv15967893, essv15967904, essv15967920, essv15967899, essv15967908, essv15967903, essv15967918, essv15967892, essv15967890, essv15967909, essv15967895, essv15967906, essv15967894, essv15967901, essv15967887, essv15967912, essv15967897, essv15967910, essv15967919, essv15967905
SamplesNA18647, NA19712, HG01072, HG01918, NA19184, HG01680, HG01920, HG01844, HG00331, HG01682, NA18868, HG01133, NA19028, HG01982, NA18912, NA19054, NA19984, NA19068, NA19471, HG01061, NA19056, NA19055, HG00099, HG01676, NA19347, HG02484, HG02301, NA19038, NA18560, NA20318, HG02141, HG01985, HG00136, NA19121
Known GenesFGF22, RNF126
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643357
Frequency
Sample Size2504
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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