A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585993



Internal ID6973512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49352784..49378438hg38UCSC Ensembl
Innerchr1:49352784..49378438hg38UCSC Ensembl
Outerchr1:49352284..49378938hg38UCSC Ensembl
chr1:49818456..49844110hg19UCSC Ensembl
Innerchr1:49818456..49844110hg19UCSC Ensembl
Outerchr1:49817956..49844610hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3825655
hg1925655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9928107
SamplesHG03905
Known GenesAGBL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585993
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