A curated catalogue of human genomic structural variation
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Variant Details
Variant: dgv765e214
Internal ID
20122188
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
chr2:232381419..232416439
hg38
UCSC
Ensembl
chr2:233246129..233281149
hg19
UCSC
Ensembl
Cytoband
2q37.1
Allele length
Assembly
Allele length
hg38
35021
hg19
35021
Variant Type
CNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
Supporting Variants
esv3594647
,
esv3594648
Samples
HG03687, NA20752, NA20894, HG04038, HG03705, HG04022, HG03673, HG03079, HG03746, NA20845, NA20755, HG03771, HG02307, HG03871, NA19752, NA20362, NA19439, NA21095, HG03973, HG03600, HG03646, NA20849, NA21101
Known Genes
ALPP
,
ALPPL2
,
ECEL1P2
Method
Sequencing
Analysis
Platform
Multiple platforms
Comments
Reference
1000_Genomes_Consortium_Phase_3
Pubmed ID
21293372
Accession Number(s)
dgv765e214
Frequency
Sample Size
2504
Observed Gain
0
Observed Loss
23
Observed Complex
0
Frequency
n/a
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