A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587461



Internal ID6974885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143398896..143520682hg38UCSC Ensembl
chr1:148832244..148954132hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38121787
hg19121889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv47e214
Supporting Variantsessv10119810, essv10119807, essv10119813, essv10119820, essv10119804, essv10119808, essv10119800, essv10119799, essv10119822, essv10119806, essv10119811, essv10119809, essv10119821, essv10119801, essv10119816, essv10119819, essv10119823, essv10119798, essv10119802, essv10119817, essv10119815, essv10119805, essv10119818, essv10119812, essv10119803, essv10119814
SamplesHG01443, HG01806, HG03455, HG03235, HG03897, HG01046, HG01950, HG02427, HG02009, HG03160, HG01938, HG00436, HG03900, HG02102, NA18976, NA20859, HG02332, HG01257, HG03692, NA19090, HG02274, HG03789, HG03849, HG03470, HG01920, HG02760
Known GenesLOC101929780, LOC645166
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587461
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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