A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv93e201
Internal ID
20124980
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr10:12774614..12775446
hg38
UCSC
Ensembl
chr10:12816613..12817445
hg19
UCSC
Ensembl
Cytoband
10p13
Allele length
Assembly
Allele length
hg38
833
hg19
833
Variant Type
CNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2733251
,
esv2733228
Samples
SSM059, SSM027, SSM087, SSM013, SSM009, SSM050, SSM042, SSM088, SSM092, SSM018, SSM061, SSM026, SSM089, SSM017, SSM031, SSM066, SSM007, SSM078, SSM016, SSM055, SSM025, SSM052, SSM012
Known Genes
CAMK1D
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)
dgv93e201
Frequency
Sample Size
96
Observed Gain
0
Observed Loss
23
Observed Complex
0
Frequency
n/a
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