A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv1133e201
Internal ID
20126020
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr7:152403727..152403926
hg38
UCSC
Ensembl
chr7:152100812..152101011
hg19
UCSC
Ensembl
Cytoband
7q36.1
Allele length
Assembly
Allele length
hg38
200
hg19
200
Variant Type
CNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv2735449
,
esv2735447
Samples
SSM027, SSM079, SSM065, SSM087, SSM013, SSM093, SSM074, SSM023, SSM084, SSM021, SSM047, SSM029, SSM096, SSM026, SSM019, SSM032, SSM031, SSM067, SSM033, SSM068, SSM020, SSM015, SSM016, SSM022
Known Genes
KMT2C
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)
dgv1133e201
Frequency
Sample Size
96
Observed Gain
0
Observed Loss
24
Observed Complex
0
Frequency
n/a
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