A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608250



Internal ID6995180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18753803..18759861hg38UCSC Ensembl
chr6:18754034..18760092hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386059
hg196059
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12211231, essv12211200, essv12211220, essv12211207, essv12211223, essv12211189, essv12211217, essv12211225, essv12211241, essv12211232, essv12211235, essv12211240, essv12211192, essv12211205, essv12211208, essv12211191, essv12211184, essv12211227, essv12211229, essv12211244, essv12211242, essv12211230, essv12211216, essv12211212, essv12211238, essv12211190, essv12211236, essv12211201, essv12211226, essv12211209, essv12211196, essv12211193, essv12211185, essv12211213, essv12211221, essv12211224, essv12211210, essv12211233, essv12211194, essv12211215, essv12211211, essv12211199, essv12211219, essv12211202, essv12211239, essv12211183, essv12211222, essv12211187, essv12211186, essv12211204, essv12211203, essv12211195, essv12211243, essv12211218, essv12211234, essv12211237, essv12211197, essv12211228, essv12211206, essv12211188, essv12211198, essv12211214
SamplesHG03773, HG00304, NA21097, NA21089, HG03960, HG02784, NA21100, HG04211, HG03015, HG02600, HG03963, HG04001, NA20846, HG01953, HG03490, HG03976, HG04182, HG03911, NA11932, NA12815, NA19159, NA20889, HG04075, HG03784, HG03697, NA21119, HG03928, HG02253, HG02775, NA20862, NA20875, HG03951, HG04155, HG02657, HG03974, HG02783, HG02601, HG04152, HG03755, HG00126, NA20542, HG01589, HG02684, HG02546, HG03920, NA21123, HG03850, HG03846, HG03779, HG04080, HG03729, NA20906, HG02700, HG03977, HG03863, HG03022, HG03684, HG03856, HG03985, HG03931, NA21120, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608250
Frequency
Sample Size2504
Observed Gain62
Observed Loss0
Observed Complex0
Frequencyn/a


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