A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14003276



Internal ID4005092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5227161..5249125hg38UCSC Ensembl
Innerchr11:5227161..5249125hg38UCSC Ensembl
Outerchr11:5226661..5249625hg38UCSC Ensembl
chr11:5248391..5270355hg19UCSC Ensembl
Innerchr11:5248391..5270355hg19UCSC Ensembl
Outerchr11:5247891..5270855hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3821965
hg1921965
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625217
Supporting Variants
SamplesNA19475
Known GenesHBBP1, HBD, HBG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14003276
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