A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587922



Internal ID6628222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172302701..172308161hg38UCSC Ensembl
Innerchr1:172302751..172308111hg38UCSC Ensembl
Outerchr1:172302651..172308211hg38UCSC Ensembl
chr1:172271841..172277301hg19UCSC Ensembl
Innerchr1:172271891..172277251hg19UCSC Ensembl
Outerchr1:172271791..172277351hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg385461
hg195461
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10188430
SamplesNA18748
Known GenesDNM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587922
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