A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv1018e201
Internal ID
20125905
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr6:136278887..136289701
hg38
UCSC
Ensembl
chr6:136600025..136610839
hg19
UCSC
Ensembl
Cytoband
6q23.3
Allele length
Assembly
Allele length
hg38
10815
hg19
10815
Variant Type
CNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2732762
,
esv2741022
Samples
SSM045, SSM079, SSM038, SSM039, SSM088, SSM023, SSM028, SSM084, SSM047, SSM096, SSM089, SSM017, SSM094, SSM031, SSM067, SSM006, SSM068, SSM072, SSM082, SSM020, SSM005, SSM076, SSM091, SSM070, SSM034, SSM004, SSM043
Known Genes
BCLAF1
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)
dgv1018e201
Frequency
Sample Size
96
Observed Gain
0
Observed Loss
27
Observed Complex
0
Frequency
n/a
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