A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585260



Internal ID6625580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13480593..13483182hg38UCSC Ensembl
Innerchr1:13480604..13483172hg38UCSC Ensembl
Outerchr1:13480583..13483193hg38UCSC Ensembl
chr1:13807061..13809636hg19UCSC Ensembl
Innerchr1:13807072..13809626hg19UCSC Ensembl
Outerchr1:13807051..13809647hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382590
hg192576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9859805, essv9859803, essv9859804
SamplesHG02090, HG01988, NA19323
Known GenesLRRC38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585260
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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