A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9853583



Internal ID6478876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11037585..11046365hg38UCSC Ensembl
Innerchr1:11037585..11046365hg38UCSC Ensembl
Outerchr1:11037357..11046534hg38UCSC Ensembl
chr1:11097642..11106422hg19UCSC Ensembl
Innerchr1:11097642..11106422hg19UCSC Ensembl
Outerchr1:11097414..11106591hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg388781
hg198781
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585212
Supporting Variants
SamplesNA19257
Known GenesMASP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9853583
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