A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604601



Internal ID6991629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32105362..32126624hg38UCSC Ensembl
chr5:32105468..32126730hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3821263
hg1921263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1087e214
Supporting Variantsessv11855239, essv11855256, essv11855214, essv11855231, essv11855271, essv11855230, essv11855211, essv11855243, essv11855258, essv11855238, essv11855259, essv11855263, essv11855270, essv11855264, essv11855240, essv11855234, essv11855255, essv11855218, essv11855212, essv11855251, essv11855219, essv11855221, essv11855250, essv11855222, essv11855254, essv11855232, essv11855206, essv11855245, essv11855233, essv11855216, essv11855229, essv11855215, essv11855220, essv11855213, essv11855273, essv11855244, essv11855257, essv11855262, essv11855269, essv11855267, essv11855253, essv11855236, essv11855225, essv11855224, essv11855266, essv11855260, essv11855228, essv11855241, essv11855208, essv11855247, essv11855217, essv11855265, essv11855248, essv11855237, essv11855268, essv11855207, essv11855272, essv11855227, essv11855226, essv11855249, essv11855209, essv11855252, essv11855242, essv11855235, essv11855246, essv11855261, essv11855274, essv11855223, essv11855210
SamplesNA18998, NA18745, NA20877, HG01773, NA18565, HG02375, HG00364, NA20805, HG00566, NA18959, HG00341, NA18526, HG04001, NA19068, HG04022, HG03874, NA20287, NA12275, HG01308, HG03777, NA19722, HG02138, NA18985, HG03832, HG02134, HG03709, NA18951, HG03785, NA18747, HG02345, HG02380, NA20314, NA18637, NA19654, HG01777, HG01094, HG00690, HG02121, HG01613, HG03643, NA19752, HG01842, HG00445, NA20821, NA20851, NA18632, HG01190, HG03838, NA20520, NA21123, NA20792, NA19679, HG02137, HG04003, NA19759, HG01606, HG02401, HG02230, NA20849, HG04014, HG00342, HG01254, NA20807, NA18983, NA19755, HG00345, NA19063, NA18562, HG00593
Known GenesGOLPH3, PDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604601
Frequency
Sample Size2504
Observed Gain69
Observed Loss0
Observed Complex0
Frequencyn/a


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