A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv539e201
Internal ID
20125426
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr19:55032926..55033348
hg38
UCSC
Ensembl
chr19:55544294..55544716
hg19
UCSC
Ensembl
Cytoband
19q13.42
Allele length
Assembly
Allele length
hg38
423
hg19
423
Variant Type
CNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2718941
,
esv2718943
Samples
SSM083, SSM071, SSM027, SSM024, SSM045, SSM011, SSM041, SSM069, SSM029, SSM096, SSM026, SSM019, SSM032, SSM044, SSM033, SSM068, SSM040, SSM082, SSM020, SSM016, SSM037, SSM077, SSM022, SSM034, SSM043, SSM098
Known Genes
GP6
Method
Sequencing
Analysis
Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
Platform
Illumina HiSeq 2000
Comments
Reference
Wong_et_al_2012b
Pubmed ID
23290073
Accession Number(s)
dgv539e201
Frequency
Sample Size
96
Observed Gain
0
Observed Loss
26
Observed Complex
0
Frequency
n/a
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