A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596912



Internal ID6984226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:88099538..88102451hg38UCSC Ensembl
Innerchr3:88099559..88102431hg38UCSC Ensembl
Outerchr3:88099518..88102472hg38UCSC Ensembl
chr3:88148688..88151601hg19UCSC Ensembl
Innerchr3:88148709..88151581hg19UCSC Ensembl
Outerchr3:88148668..88151622hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg382914
hg192914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11066218
SamplesHG00257
Known GenesCGGBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596912
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