A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7759720



Internal ID13461138
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 StatusS
Merged Variantsesv3305347
Supporting Variants
SamplesNA12414
Known GenesFAF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7759720
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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