A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585448



Internal ID6972971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21496422..21501558hg38UCSC Ensembl
Innerchr1:21496422..21501558hg38UCSC Ensembl
Outerchr1:21496257..21501849hg38UCSC Ensembl
chr1:21822915..21828051hg19UCSC Ensembl
Innerchr1:21822915..21828051hg19UCSC Ensembl
Outerchr1:21822750..21828342hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg385137
hg195137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9888820, essv9888819
SamplesHG02798, HG00174
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585448
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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