A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594680



Internal ID6634956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233740390..233751659hg38UCSC Ensembl
chr2:234649036..234660305hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811270
hg1911270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10879731, essv10879745, essv10879738, essv10879723, essv10879720, essv10879732, essv10879730, essv10879739, essv10879735, essv10879721, essv10879728, essv10879740, essv10879746, essv10879749, essv10879743, essv10879753, essv10879734, essv10879752, essv10879744, essv10879725, essv10879727, essv10879722, essv10879748, essv10879736, essv10879747, essv10879737, essv10879751, essv10879750, essv10879754, essv10879733, essv10879729, essv10879726, essv10879742, essv10879724, essv10879741
SamplesHG02107, HG02477, NA18861, HG03479, NA18523, HG03129, NA18517, HG02010, HG02944, HG03103, NA19320, HG02613, HG00256, NA19383, NA18934, HG02568, NA19107, HG03578, NA19096, HG02643, NA19908, HG03024, HG03195, HG03391, NA19027, HG03366, HG03072, NA19328, HG02484, NA18915, HG03246, NA19446, HG02891, HG01462, HG02620
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594680
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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