A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv1055e201
Internal ID
22760413
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr6:170168903..170171427
hg38
UCSC
Ensembl
chr6:170484127..170486651
hg19
UCSC
Ensembl
Cytoband
6q27
Allele length
Assembly
Allele length
hg38
2525
hg19
2525
Variant Type
CNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2733576
,
esv2733578
Samples
SSM100, SSM071, SSM027, SSM075, SSM045, SSM046, SSM042, SSM023, SSM028, SSM021, SSM069, SSM029, SSM089, SSM017, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM037, SSM022, SSM098
Known Genes
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)
dgv1055e201
Frequency
Sample Size
96
Observed Gain
0
Observed Loss
29
Observed Complex
0
Frequency
n/a
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