A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635520



Internal ID7022319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100972085..100982511hg38UCSC Ensembl
chr14:101438422..101448848hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3810427
hg1910427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15108106, essv15108112, essv15108093, essv15108076, essv15108103, essv15108097, essv15108080, essv15108118, essv15108077, essv15108091, essv15108116, essv15108107, essv15108114, essv15108102, essv15108086, essv15108092, essv15108085, essv15108117, essv15108078, essv15108083, essv15108110, essv15108094, essv15108108, essv15108098, essv15108100, essv15108109, essv15108099, essv15108075, essv15108088, essv15108111, essv15108113, essv15108089, essv15108087, essv15108095, essv15108119, essv15108090, essv15108081, essv15108082, essv15108101, essv15108079, essv15108104, essv15108084, essv15108096, essv15108105, essv15108115
SamplesNA20339, NA19794, HG01624, NA18647, HG00351, NA19734, NA18639, HG02277, NA19314, HG02285, HG01779, HG02087, HG01277, NA18642, HG00355, HG00130, NA19923, HG02003, NA21107, NA12815, HG02104, HG01626, NA21105, NA21106, NA18747, NA18525, HG02090, NA18939, HG01345, HG02497, NA21116, HG00350, NA19031, HG02081, HG02484, NA21113, HG02089, NA21117, NA19149, NA12873, HG01623, HG01620, HG02139, NA12874, HG01618
Known GenesSNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635520
Frequency
Sample Size2504
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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