A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585225



Internal ID6972749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11665252..11666431hg38UCSC Ensembl
Innerchr1:11665266..11666417hg38UCSC Ensembl
Outerchr1:11665238..11666445hg38UCSC Ensembl
chr1:11725309..11726488hg19UCSC Ensembl
Innerchr1:11725323..11726474hg19UCSC Ensembl
Outerchr1:11725295..11726502hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381180
hg191180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9855546, essv9855547, essv9855550, essv9855548, essv9855549
SamplesNA19466, NA19443, NA19307, NA19440, NA19321
Known GenesFBXO6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585225
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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