A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11269511



Internal ID2111347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191251629..191553437hg38UCSC Ensembl
chr3:190969418..191271226hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38301809
hg19301809
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599095
Supporting Variants
SamplesHG01920
Known GenesCCDC50, PYDC2, UTS2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11269511
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