A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589431



Internal ID6976759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245170587..245171753hg38UCSC Ensembl
Innerchr1:245170594..245171747hg38UCSC Ensembl
Outerchr1:245170581..245171760hg38UCSC Ensembl
chr1:245333889..245335055hg19UCSC Ensembl
Innerchr1:245333896..245335049hg19UCSC Ensembl
Outerchr1:245333883..245335062hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381167
hg191167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360407
SamplesNA19740
Known GenesKIF26B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589431
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer