A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv917e214
Internal ID
20122340
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr3:100604090..100730204
hg38
UCSC
Ensembl
chr3:100322934..100449048
hg19
UCSC
Ensembl
Cytoband
3q12.2
Allele length
Assembly
Allele length
hg38
126115
hg19
126115
Variant Type
CNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv3597175
,
esv3597177
,
esv3597178
Samples
HG01348, HG01066, HG01531, HG01522, HG01140, HG01702, HG01676, HG04042, HG01492, HG00736, HG01761, HG01083, HG01110, HG02224, HG01121, HG01603, HG00368, HG01512, HG01334, HG01679, HG00258, NA20801, NA20527, HG01620, HG02239, NA19726, NA19758
Known Genes
GPR128
,
TFG
Method
Sequencing
Analysis
Platform
Multiple platforms
Comments
Reference
1000_Genomes_Consortium_Phase_3
Pubmed ID
21293372
Accession Number(s)
dgv917e214
Frequency
Sample Size
2504
Observed Gain
27
Observed Loss
0
Observed Complex
0
Frequency
n/a
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