A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv679e201
Internal ID
20125566
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr20:63559467..63559781
hg38
UCSC
Ensembl
chr20:62190820..62191134
hg19
UCSC
Ensembl
Cytoband
20q13.33
Allele length
Assembly
Allele length
hg38
315
hg19
315
Variant Type
CNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2722941
,
esv2722942
,
esv2722939
Samples
SSM008, SSM024, SSM046, SSM079, SSM097, SSM088, SSM028, SSM090, SSM047, SSM029, SSM096, SSM035, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM081, SSM040, SSM072, SSM082, SSM080, SSM037, SSM022, SSM010, SSM070, SSM095, SSM098
Known Genes
HELZ2
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)
dgv679e201
Frequency
Sample Size
96
Observed Gain
0
Observed Loss
29
Observed Complex
0
Frequency
n/a
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