A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305347



Internal ID15152295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50564287..50564288hg38UCSC Ensembl
Innerchr1:50564259..50564316hg38UCSC Ensembl
Outerchr1:50564258..50564317hg38UCSC Ensembl
chr1:51029959..51029960hg19UCSC Ensembl
Innerchr1:51029931..51029988hg19UCSC Ensembl
Outerchr1:51029930..51029989hg19UCSC Ensembl
chr1:50802547..50802548hg18UCSC Ensembl
Innerchr1:50802576..50802519hg18UCSC Ensembl
Outerchr1:50802518..50802577hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38242
hg19242
hg18242
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7740701, essv7759720, essv7759524, essv7762065, essv7755765, essv7752589, essv7742887, essv7752159, essv7750743
SamplesNA11829, NA12414, NA12004, NA11918, NA12287, NA12043, NA07037, NA06986, NA12776
Known GenesFAF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305347
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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