A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv1032e201
Internal ID
20125919
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr6:163322799..163323268
hg38
UCSC
Ensembl
chr6:163743831..163744300
hg19
UCSC
Ensembl
Cytoband
6q26
Allele length
Assembly
Allele length
hg38
470
hg19
470
Variant Type
CNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2733115
,
esv2733113
Samples
SSM100, SSM046, SSM079, SSM038, SSM028, SSM084, SSM021, SSM047, SSM017, SSM019, SSM032, SSM044, SSM033, SSM066, SSM085, SSM068, SSM040, SSM015, SSM016, SSM022, SSM043, SSM056, SSM012
Known Genes
PACRG-AS1
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)
dgv1032e201
Frequency
Sample Size
96
Observed Gain
0
Observed Loss
23
Observed Complex
0
Frequency
n/a
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